Published in Nature on August 21, 1985
Global prevalence of putative haemochromatosis mutations. J Med Genet (1997) 4.03
The detection of linkage disequilibrium between closely linked markers: RFLPs at the AI-CIII apolipoprotein genes. Am J Hum Genet (1988) 2.85
Alpha1-antitrypsin deficiency. 1: epidemiology of alpha1-antitrypsin deficiency. Thorax (2004) 1.89
Alpha 1-antitrypsin deficiency: memorandum from a WHO meeting. Bull World Health Organ (1997) 1.66
alpha 1-Antitrypsin: molecular pathology, leukocytes, and tissue damage. J Clin Invest (1986) 1.61
Linkage disequilibrium of plasminogen polymorphisms and assignment of the gene to human chromosome 6q26-6q27. Am J Hum Genet (1987) 1.43
Emphysema associated with complete absence of alpha 1- antitrypsin in serum and the homozygous inheritance [corrected] of a stop codon in an alpha 1-antitrypsin-coding exon. Am J Hum Genet (1988) 1.37
Alpha-1 antitrypsin deficiency is not a rare disease but a disease that is rarely diagnosed. Environ Health Perspect (2003) 1.15
Prenatal diagnosis of alpha 1 antitrypsin deficiency and estimates of fetal risk for disease. J Med Genet (1987) 1.07
DNA restriction-site polymorphisms associated with the alpha 1-antitrypsin gene. Am J Hum Genet (1987) 1.05
DNA polymorphisms of the human alpha 1 antitrypsin gene in normal subjects and in patients with pulmonary emphysema. J Med Genet (1987) 1.02
Haplotypes of the coagulation factor XIII A subunit locus in normal and deficient subjects. Am J Hum Genet (1988) 1.00
Nonuniform linkage disequilibrium within a 1,500-kb region of the human immunoglobulin heavy-chain complex. Am J Hum Genet (1991) 1.00
Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients. J Clin Invest (1992) 0.95
The prevalence of alpha-1 antitrypsin deficiency in Ireland. Respir Res (2011) 0.93
Molecular basis of alpha 1-antitrypsin deficiency and emphysema associated with the alpha 1-antitrypsin Mmineral springs allele. Mol Cell Biol (1990) 0.92
Why has it been so difficult to prove the efficacy of alpha-1-antitrypsin replacement therapy? Insights from the study of disease pathogenesis. Drug Des Devel Ther (2011) 0.92
Tracing the mutations in cystic fibrosis by means of closely linked DNA markers. Am J Hum Genet (1989) 0.91
Identification and DNA sequence analysis of 15 new alpha 1-antitrypsin variants, including two PI*Q0 alleles and one deficient PI*M allele. Am J Hum Genet (1994) 0.91
Identification of a mutation in the structural alpha-L-fucosidase gene in fucosidosis. Am J Hum Genet (1988) 0.89
In-frame single codon deletion in the Mmalton deficiency allele of alpha 1-antitrypsin. Am J Hum Genet (1989) 0.89
Physical and genetic mapping of the serpin gene cluster at 14q32.1: allelic association and a unique haplotype associated with alpha 1-antitrypsin deficiency. Am J Hum Genet (1994) 0.88
Rare deficiency types of alpha 1-antitrypsin: electrophoretic variation and DNA haplotypes. Am J Hum Genet (1989) 0.87
Genetic studies on a new deficiency gene (PI*Ztun) at the PI locus. J Med Genet (1989) 0.87
De novo microdeletion on an inherited Robertsonian translocation chromosome: a cause for dysmorphism in the apparently balanced translocation carrier. Am J Hum Genet (1993) 0.86
Molecular basis of alpha 1-antitrypsin deficiency and its potential therapy by gene transfer. J Inherit Metab Dis (1986) 0.83
Deoxyribonucleic acid (DNA) polymorphism of the alpha 1-antitrypsin gene in chronic lung disease. Br Med J (Clin Res Ed) (1987) 0.82
Effect of recombinant α1-antitrypsin Fc-fused (AAT-Fc)protein on the inhibition of inflammatory cytokine production and streptozotocin-induced diabetes. Mol Med (2013) 0.82
Cloning of the human alpha 1 antichymotrypsin gene and genetic analysis of the gene in relation to alpha 1 antitrypsin deficiency. J Med Genet (1988) 0.82
A null deficiency allele of alpha 1-antitrypsin, QOludwigshafen, with altered tertiary structure. J Clin Invest (1990) 0.82
Molecular linkage of the human alpha 1-antitrypsin and corticosteroid-binding globulin genes on chromosome 14q32.1. Mamm Genome (1997) 0.81
Sequence data of the rare deficient alpha 1-antitrypsin variant PI Zaugsburg. Am J Hum Genet (1990) 0.80
Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations. J Clin Invest (2015) 0.78
Association of alpha 1-antitrypsin deficiency with lung and liver diseases. West J Med (1987) 0.78
DNA haplotyping of PI Z and M alleles within the German population. Am J Hum Genet (1988) 0.78
Application of three intragenic DNA polymorphisms for carrier detection in haemophilia B. J Med Genet (1986) 0.77
The molecular structure and pathology of alpha 1-antitrypsin. Lung (1990) 0.76
The effect of α1-antitrypsin deficiency combined with increased bacterial loads on chronic obstructive pulmonary disease pharmacotherapy: A prospective, parallel, controlled pilot study. J Adv Res (2016) 0.75
The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet (1993) 5.97
Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase. Biochemistry (1985) 4.78
alpha 1-antitrypsin deficiency detection by direct analysis of the mutation in the gene. Nature (1983) 4.38
Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria. Am J Hum Genet (1985) 3.77
Complete sequence of the cDNA for human alpha 1-antitrypsin and the gene for the S variant. Biochemistry (1984) 3.75
The Wilson disease gene: spectrum of mutations and their consequences. Nat Genet (1995) 3.41
Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria. Nature (1986) 3.29
Assessment of recombinant adenoviral vectors for hepatic gene therapy. Hum Gene Ther (1993) 3.02
Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria. Nature (1984) 2.82
Genes for immunoglobulin heavy chains and for alpha 1-antitrypsin are localized to specific regions of chromosome 14q. Nature (1982) 2.75
Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with phenylketonuria. Hum Genet (1987) 2.73
DNA sequencing with dye-labeled terminators and T7 DNA polymerase: effect of dyes and dNTPs on incorporation of dye-terminators and probability analysis of termination fragments. Nucleic Acids Res (1992) 2.71
Complete nucleotide sequence of the chicken chromosomal ovalbumin gene and its biological significance. Biochemistry (1981) 2.67
Screening for phenylketonuria mutations by DNA amplification with the polymerase chain reaction. Lancet (1988) 2.67
Regional mapping of the phenylalanine hydroxylase gene and the phenylketonuria locus in the human genome. Proc Natl Acad Sci U S A (1985) 2.58
The ovalbumin gene: alleles created by mutations in the intervening sequences of the natural gene. Cell (1979) 2.56
A sensitive and rapid method for recombinant phage screening. Methods Enzymol (1979) 2.52
Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene. Biochemistry (1986) 2.49
Preparation and preliminary characterization of purified ovalbumin messenger RNA from the hen oviduct. Biochemistry (1975) 2.42
An amino-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2. Nature (1987) 2.37
The importance of quadriceps and hamstring muscle loading on knee kinematics and in-situ forces in the ACL. J Biomech (1999) 2.31
Physical and chemical characterization of purified ovalbumin messenger RNA. J Biol Chem (1975) 2.28
Restriction fragment length polymorphisms associated with immunoglobulin C gamma genes reveal linkage disequilibrium and genomic organization. Proc Natl Acad Sci U S A (1983) 2.23
Definition of 5' and 3' structural boundaries of the chromatin domain containing the ovalbumin multigene family. J Biol Chem (1982) 2.22
Mouse hepatocytes migrate to liver parenchyma and function indefinitely after intrasplenic transplantation. Proc Natl Acad Sci U S A (1991) 2.19
Association between human rhinovirus C and severity of acute asthma in children. Eur Respir J (2010) 2.15
Influences of flexor sheath continuity and early motion on tendon healing in dogs. J Hand Surg Am (1990) 2.14
Human microphthalmia associated with mutations in the retinal homeobox gene CHX10. Nat Genet (2000) 2.13
A frameshift mutation results in a truncated alpha 1-antitrypsin that is retained within the rough endoplasmic reticulum. J Biol Chem (1988) 2.11
The synthesis and properties of the complete complementary DNA transcript of ovalbumin mRNA. Biochemistry (1976) 2.08
The chick ovomucoid gene contains at least six intervening sequences. Nature (1979) 2.01
A new method for determining cross-sectional shape and area of soft tissues. J Biomech Eng (1988) 1.96
Hepatic gene therapy: persistent expression of human alpha 1-antitrypsin in mice after direct gene delivery in vivo. Hum Gene Ther (1992) 1.92
Cloning and sequence of cDNA coding for alpha 1-antitrypsin. Proc Natl Acad Sci U S A (1981) 1.91
Assignment of the alpha 1-antitrypsin gene and a sequence-related gene to human chromosome 14 by molecular hybridization. Am J Hum Genet (1983) 1.91
The development of mature gait. J Bone Joint Surg Am (1980) 1.91
Effects of postmortem storage by freezing on ligament tensile behavior. J Biomech (1986) 1.89
Nascent chicken ovalbumin contains the functional equivalent of a signal sequence. J Cell Biol (1978) 1.88
GT to AT transition at a splice donor site causes skipping of the preceding exon in phenylketonuria. Nucleic Acids Res (1987) 1.86
Polymerase chain reaction amplification from dried blood spots on Guthrie cards. Lancet (1990) 1.86
Effects of immobilization on joints. Clin Orthop Relat Res (1987) 1.84
Hepatitis B virus transactivator X protein is not tumorigenic in transgenic mice. J Virol (1990) 1.80
The natural ovalbumin gene contains seven intervening sequences. Nature (1978) 1.79
Identification of multiple species of calmodulin messenger RNA using a full length complementary DNA. J Biol Chem (1983) 1.79
Wilson disease and Menkes disease: new handles on heavy-metal transport. Trends Genet (1994) 1.78
Ovalbumin is synthesized in mouse cells transformed with the natural chicken ovalbumin gene. Proc Natl Acad Sci U S A (1980) 1.77
An autosomal dominant syndrome with 'acromegaloid' features and thickened oral mucosa. J Med Genet (1985) 1.76
Rheumatoid arthritis and alpha-1-antitrypsin. Lancet (1976) 1.75
Report of the committee on the genetic constitution of chromosomes 14 and 15. Cytogenet Cell Genet (1989) 1.74
Accumulation of PiZ alpha 1-antitrypsin causes liver damage in transgenic mice. J Clin Invest (1989) 1.72
Sequence homology and structural comparison between the chromosomal human alpha 1-antitrypsin and chicken ovalbumin genes. Nature (1982) 1.70
Polysome immunoprecipitation of phenylalanine hydroxylase mRNA from rat liver and cloning of its cDNA. Proc Natl Acad Sci U S A (1982) 1.69
Molecular cloning of ovomucoid gene sequences from partially purified ovomucoid messenger RNA. Biochemistry (1978) 1.67
The Pi polymorphism: genetic, biochemical, and clinical aspects of human alpha 1-antitrypsin. Adv Hum Genet (1981) 1.67
Report of Nomenclature Meeting for alpha 1-antitrypsin, INSERM, Rouen/Bois-Guillaume-1978. Hum Genet (1980) 1.66
Regulation of casein messenger RNA during the development of the rat mammary gland. Biochemistry (1975) 1.66
Prenatal diagnosis of classic phenylketonuria by DNA analysis. Lancet (1985) 1.64
Chitinase gene expression during mycoparasitic interaction of Trichoderma harzianum with its host. Fungal Genet Biol (1999) 1.64
Nonlinear material properties of intact cornea and sclera. Exp Eye Res (1972) 1.63
The ovalbumin gene: cloning and molecular organization of the entire natural gene. Proc Natl Acad Sci U S A (1979) 1.61
Full-length cDNA for rabbit tryptophan hydroxylase: functional domains and evolution of aromatic amino acid hydroxylases. Proc Natl Acad Sci U S A (1987) 1.59
DNA sequence for cloned cDNA for murine amelogenin reveal the amino acid sequence for enamel-specific protein. Biochem Biophys Res Commun (1985) 1.57
Isolation and sequence characterization of a cDNA clone of human antithrombin III. Proc Natl Acad Sci U S A (1983) 1.56
In situ forces in the anterior cruciate ligament and its bundles in response to anterior tibial loads. J Orthop Res (1997) 1.55
A genetic study of Wilson's disease: evidence for heterogeneity. Am J Hum Genet (1972) 1.55
Cloning large segments of genomic DNA using cosmid vectors. Methods Enzymol (1987) 1.55
The LEC rat has a deletion in the copper transporting ATPase gene homologous to the Wilson disease gene. Nat Genet (1994) 1.52
Tissue specific expression of the human alpha-1-antitrypsin gene in transgenic mice. Nucleic Acids Res (1987) 1.51
Phenylalanine hydroxylase deficiency caused by a single base substitution in an exon of the human phenylalanine hydroxylase gene. Biochemistry (1988) 1.50
Point mutagenesis of the ovalbumin gene promoter sequence and its effect on in vitro transcription. J Biol Chem (1982) 1.50
Effects of early intermittent passive mobilization on healing canine flexor tendons. J Hand Surg Am (1982) 1.50
Gene therapy for phenylketonuria: phenotypic correction in a genetically deficient mouse model by adenovirus-mediated hepatic gene transfer. Gene Ther (1994) 1.50
Genes from mycoparasitic fungi as a source for improving plant resistance to fungal pathogens. Proc Natl Acad Sci U S A (1998) 1.50
Recommendations for locus-specific databases and their curation. Hum Mutat (2008) 1.49
The forces in the anterior cruciate ligament and knee kinematics during a simulated pivot shift test: A human cadaveric study using robotic technology. Arthroscopy (2000) 1.49
Tensile and viscoelastic properties of human patellar tendon. J Orthop Res (1994) 1.49
Hamstrings--an anterior cruciate ligament protagonist. An in vitro study. Am J Sports Med (1993) 1.48
Importance of the medial meniscus in the anterior cruciate ligament-deficient knee. J Orthop Res (2000) 1.47
Gene therapy for brain tumors: regression of experimental gliomas by adenovirus-mediated gene transfer in vivo. Proc Natl Acad Sci U S A (1994) 1.46
Gene transfer and expression of human phenylalanine hydroxylase. Science (1985) 1.46
Disruption of the neuronal PAS3 gene in a family affected with schizophrenia. J Med Genet (2003) 1.46
The biomechanical and biochemical properties of swine tendons--long term effects of exercise on the digital extensors. Connect Tissue Res (1980) 1.46
Collation of RFLP haplotypes at the human phenylalanine hydroxylase (PAH) locus. Am J Hum Genet (1988) 1.45
A functional comparison of animal anterior cruciate ligament models to the human anterior cruciate ligament. Ann Biomed Eng (1998) 1.45
Missense mutations associated with RFLP haplotypes 1 and 4 of the human phenylalanine hydroxylase gene. Am J Hum Genet (1990) 1.45
Therapeutic serum concentrations of human alpha-1-antitrypsin after adenoviral-mediated gene transfer into mouse hepatocytes. Hepatology (1995) 1.44
Ovalbumin gene. Action of restriction endonucleases upon DNA coding sequence. J Biol Chem (1977) 1.44
Physical linkage of a human immunoglobulin heavy chain variable region gene segment to diversity and joining region elements. Proc Natl Acad Sci U S A (1988) 1.44
Immobility effects on synovial joints the pathomechanics of joint contracture. Biorheology (1980) 1.44
Retroviral gene transfer into primary hepatocytes: implications for genetic therapy of liver-specific functions. Proc Natl Acad Sci U S A (1987) 1.44
A preliminary evaluation of the Gonozyme test. Sex Transm Dis (1984) 1.43
Sequence homology between human alpha 1-antichymotrypsin, alpha 1-antitrypsin, and antithrombin III. Biochemistry (1983) 1.43
The PKU locus in man is on chromosome 12. Am J Hum Genet (1984) 1.42
The ovalbumin gene: structural sequences in native chicken DNA are not contiguous. Proc Natl Acad Sci U S A (1978) 1.42
Adenovirus-mediated gene transfer of endostatin in vivo results in high level of transgene expression and inhibition of tumor growth and metastases. Proc Natl Acad Sci U S A (2000) 1.42
Evaluation of promoter strength for hepatic gene expression in vivo following adenovirus-mediated gene transfer. Gene Ther (1996) 1.41
Associations between mutations and a VNTR in the human phenylalanine hydroxylase gene. Am J Hum Genet (1992) 1.41
Quantitative analysis of human cruciate ligament insertions. Arthroscopy (1999) 1.40
The toxic milk mouse is a murine model of Wilson disease. Hum Mol Genet (1996) 1.39
Inheritance of apolipoprotein C-II deficiency with hypertriglyceridemia and pancreatitis. N Engl J Med (1978) 1.38