Published in Am J Hum Genet on May 01, 1981
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
Genetic polymorphism of alpha 2HS-glycoprotein. Am J Hum Genet (1986) 0.84
A null deficiency allele of alpha 1-antitrypsin, QOludwigshafen, with altered tertiary structure. J Clin Invest (1990) 0.82
Alpha 1 antitrypsin deficiency due to MMaltonZ phenotype: case report and family study. Thorax (1986) 0.79
Alpha 1 antitrypsin (PI) phenotypes in two rheumatic diseases: a reappraisal of the association of PI subtypes in rheumatoid arthritis. Ann Rheum Dis (1989) 0.78
The parallel lives of alpha1-antitrypsin deficiency and pulmonary alveolar proteinosis. Orphanet J Rare Dis (2013) 0.75
Electroimmuno assay. Scand J Clin Lab Invest Suppl (1972) 7.52
Agarose gel electrophoresis. Clin Chem (1979) 2.72
Agarose gel electrophoresis. Scand J Clin Lab Invest Suppl (1972) 2.32
The polymorphism of "prealbumins" and alpha-1-antitrypsin in human sera. Clin Chim Acta (1967) 2.14
Quantitative studies on the inherited variants of serum alpha-1-antitrypsin. Scand J Clin Lab Invest (1969) 1.79
A new method for determination of alpha-1-antitrypsin phenotypes using isoelectric focusing on polyacrylamide gel slabs. Am J Clin Pathol (1974) 1.73
Report of Nomenclature Meeting for alpha 1-antitrypsin, INSERM, Rouen/Bois-Guillaume-1978. Hum Genet (1980) 1.66
1 -Antitrypsin deficiency: a variant with no detectable 1 -antitrypsin. Science (1973) 1.53
Immunofixation after electrofocusing: improved method for specific detection of serum proteins with determination of isoelectric points. I. Immunofixation print technique for detection of alpha-1-protease inhibitor. J Immunol Methods (1977) 1.39
Hereditary variants of serum alpha-1-antitrypsin. Am J Hum Genet (1965) 1.37
Genetic typing of alpha1-antitrypsin by immunofixation electrophoresis, identification of subtypes of Pi M. J Lab Clin Med (1976) 1.36
A new deficient variant of alpha1-antitrypsin (MDUARTE). Inability to detect the heterozygous state by antitrypsin phenotyping. Am Rev Respir Dis (1976) 1.29
The genetics of alpha1-antitrypsin: a family study in England and Scotland. Ann Hum Genet (1975) 1.26
Genetic variation of alpha 1-antitrypsin. Am J Hum Genet (1978) 1.19
alpha-1 Antitrypsin phenotypes determined by isoelectric focusing of the cysteine-antitrypsin mixed disulfide in serum. Anal Biochem (1976) 1.14
Alpha 1 antitrypsin M1: a new common genetically determined variant. Am J Hum Genet (1976) 1.12
Classification of alpha1-antitrypsin (Pi) phenotypes by isoelectrofocusing. Distinction of six subtypes of the PiM phenotype. Hum Genet (1977) 1.10
Liver disease associated with alpha1-antitrypsin deficiency in childhood. J Pediatr (1976) 1.10
Inherited variants of alpha1-antitrypsin: a new allele PiN. Can J Genet Cytol (1974) 1.09
Population genetics of alpha1-antitrypsin in the Netherlands. Description of a new electrophoretic variant. Hum Genet (1977) 1.04
A new allele of human alpha1-antitrypsin: PiNhampton. Am J Hum Genet (1978) 0.98
The Pi phenotype MP. Discovery of a ninth allele belonging to the system of inherited variants of serum alpha 1 antitrypsin. Vox Sang (1968) 0.96
alpha1-antitrypsin: common subtypes of Pi M. Hum Hered (1976) 0.96
Reliable classification of six Pi M subtypes by separator isoelectric focusing. Hum Hered (1978) 0.96
Association of severe rheumatoid arthritis with heterozygosity for alpha 1-antitrypsin deficiency. Clin Genet (1980) 0.94
A new, high frequency variant of alpha1-antitrypsin. Hum Genet (1976) 0.93
[A new PiN mutation at the Pi locus in human populations]. C R Acad Sci Hebd Seances Acad Sci D (1975) 0.87
Alpha 1-antitrypsin polymorphism of a Bantu population: description of a new allele PiL. Humangenetik (1974) 0.86
PiB, a new allele of alpha1 antitrypsin genetic variants. Biomedicine (1973) 0.83
PiT: a new allele in the alpha 1-antitrypsin system. Hum Genet (1979) 0.83
An alpha 1-antitrypsin variant, Pi B Alhambra (Lys to Asp, Glu to Asp), with rapid anodal electrophoretic mobility. Am J Hum Genet (1979) 0.81
[Method for the identification of Pi groups. 1st statistics from Languedoc]. Rev Fr Transfus (1972) 0.78
[Study of genetic variants of alpha 1-antitrypsin in bidimensional immuno-electrofocusing]. C R Acad Sci Hebd Seances Acad Sci D (1974) 0.77
alpha1-Antitrypsin with unusual behaviour. Clin Chim Acta (1976) 0.77
The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet (1993) 5.97
The Wilson disease gene: spectrum of mutations and their consequences. Nat Genet (1995) 3.41
Genes for immunoglobulin heavy chains and for alpha 1-antitrypsin are localized to specific regions of chromosome 14q. Nature (1982) 2.75
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
Association between human rhinovirus C and severity of acute asthma in children. Eur Respir J (2010) 2.15
Human microphthalmia associated with mutations in the retinal homeobox gene CHX10. Nat Genet (2000) 2.13
DNA restriction fragments associated with alpha 1-antitrypsin indicate a single origin for deficiency allele PI Z. Nature (1985) 2.03
Wilson disease and Menkes disease: new handles on heavy-metal transport. Trends Genet (1994) 1.78
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
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
A genetic study of Wilson's disease: evidence for heterogeneity. Am J Hum Genet (1972) 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
Recommendations for locus-specific databases and their curation. Hum Mutat (2008) 1.49
Disruption of the neuronal PAS3 gene in a family affected with schizophrenia. J Med Genet (2003) 1.46
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
A preliminary evaluation of the Gonozyme test. Sex Transm Dis (1984) 1.43
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
alpha 1-Antitrypsin Mmalton (Phe52-deleted) forms loop-sheet polymers in vivo. Evidence for the C sheet mechanism of polymerization. J Biol Chem (1995) 1.33
Report of the committee on the genetic constitution of chromosomes 13, 14, 15 amd 16. Cytogenet Cell Genet (1987) 1.32
Functional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant? Am J Hum Genet (1998) 1.29
Factors influencing serum ceruloplasmin levels in normal individuals. J Lab Clin Med (1966) 1.27
Protease inhibitors in patients with chronic obstructive pulmonary disease: the alpha-antitrypsin heterozygote controversy. Am Rev Respir Dis (1976) 1.24
Haplotype studies in Wilson disease. Am J Hum Genet (1994) 1.23
Severe hepatic Wilson's disease in preschool-aged children. J Pediatr (2000) 1.22
Role of the copper-binding domain in the copper transport function of ATP7B, the P-type ATPase defective in Wilson disease. J Biol Chem (1999) 1.22
Expression, purification, and metal binding properties of the N-terminal domain from the wilson disease putative copper-transporting ATPase (ATP7B). J Biol Chem (1997) 1.22
The physical organization of the human immunoglobulin heavy chain gene complex. EMBO J (1990) 1.21
Copper-dependent trafficking of Wilson disease mutant ATP7B proteins. Hum Mol Genet (2000) 1.20
A systematic controlled study of pulmonary abnormalities in rheumatoid arthritis. J Rheumatol (1983) 1.19
Genetic variation of alpha 1-antitrypsin. Am J Hum Genet (1978) 1.19
Analysis of a break in chromosome 14 mapping to the region of the immunoglobulin heavy chain locus. Proc Natl Acad Sci U S A (1983) 1.18
Haplotype and mutation analysis in Japanese patients with Wilson disease. Am J Hum Genet (1997) 1.17
Haplotypes and mutations in Wilson disease. Am J Hum Genet (1995) 1.16
Physical mapping of probes within 14q32, a subtelomeric region showing a high recombination frequency. Genomics (1990) 1.14
31P-n.m.r. studies on cerebral energy metabolism under conditions of hypoglycaemia and hypoxia in vitro. Biochem J (1983) 1.13
Attenuation of evoked field potentials from dentate granule cells by low glucose, pyruvate + malate, and sodium fluoride. Brain Res (1982) 1.12
Prenatal diagnosis of alpha 1-antitrypsin deficiency by restriction fragment length polymorphisms, and comparison with oligonucleotide probe analysis. Lancet (1986) 1.11
Liver disease associated with alpha1-antitrypsin deficiency in childhood. J Pediatr (1976) 1.10
Inherited variants of alpha1-antitrypsin: a new allele PiN. Can J Genet Cytol (1974) 1.09
Genetic polymorphism and recombination in the subtelomeric region of chromosome 14q. Genomics (1997) 1.07
Actions of L- and D-homocysteate in rat CNS: a correlation between low-affinity uptake and the time courses of excitation by microelectrophoretically applied L-glutamate analogues. J Neurochem (1977) 1.07
Prenatal diagnosis of alpha 1 antitrypsin deficiency and estimates of fetal risk for disease. J Med Genet (1987) 1.07
Complete physical map of the human immunoglobulin heavy chain constant region gene complex. Proc Natl Acad Sci U S A (1989) 1.05
High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease. J Med Genet (1996) 1.03
Allelic association and linkage studies in Wilson disease. Hum Mol Genet (1993) 1.02
Analysis of genetic variation reveals human immunoglobulin VH-region gene organization. Am J Hum Genet (1988) 1.02
Physical mapping of four serpin genes: alpha 1-antitrypsin, alpha 1-antichymotrypsin, corticosteroid-binding globulin, and protein C inhibitor, within a 280-kb region on chromosome I4q32.1. Am J Hum Genet (1993) 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
Letter: Defect in alpha1-antitrypsin deficiency. Lancet (1973) 0.99
Pulmonary function associated with the Mmalton deficient variant of alpha 1-antitrypsin. Am Rev Respir Dis (1983) 0.99
DNA markers for the diagnosis of Wilson disease. J Hepatol (1993) 0.98
A deletion map of the human immunoglobulin heavy chain variable region. J Exp Med (1991) 0.97
Genetic mapping of the copper toxicosis locus in Bedlington terriers to dog chromosome 10, in a region syntenic to human chromosome region 2p13-p16. Hum Mol Genet (1999) 0.97
Risk for liver disease in adults with alpha 1-antitrypsin deficiency. Am J Med (1983) 0.97
Brain levels of NADH and NAD+ under hypoxic and hypoglycaemic conditions in vitro. J Neurochem (1988) 0.97
The Northern and Southeastern Ojibwa: serum proteins and red cell enzyme systems. Am J Phys Anthropol (1974) 0.96
Wilson disease in Iceland: a clinical and genetic study. Am J Hum Genet (1995) 0.96
Tandem repeats 3' of the IGHA genes in the human immunoglobulin heavy chain gene cluster. Genomics (1996) 0.95
Association of severe rheumatoid arthritis with heterozygosity for alpha 1-antitrypsin deficiency. Clin Genet (1980) 0.94
Restriction enzyme MaeIII for prenatal diagnosis of alpha 1-antitrypsin deficiency. Lancet (1986) 0.94
The Jackson toxic milk mouse as a model for copper loading. Mamm Genome (2001) 0.94
Phosphoethanolamine is major constituent of phosphomonester peak detected by 31P NMR in newborn brain. Lancet (1985) 0.93
Long range restriction mapping of 13q14.3 focused on the Wilson disease region. Genomics (1993) 0.92
Prenatal diagnosis for alpha 1-antitrypsin deficiency. Lancet (1985) 0.92
His1069Gln and six novel Wilson disease mutations: analysis of relevance for early diagnosis and phenotype. Eur J Hum Genet (1999) 0.91
Transmission of Z allele from heterozygotes for alpha1-antitrypsin deficiency. Am J Hum Genet (1980) 0.91
Apa I polymorphism of a human immunoglobin VH3 subclass locus. Nucleic Acids Res (1987) 0.91
Defining the breakpoints of proximal chromosome 14q rearrangements in nine patients using flow-sorted chromosomes. Am J Med Genet (2001) 0.91
Sensitivity of guinea-pig hippocampal granule cell field potentials to hexoses in vitro: an effect on cell excitability? J Physiol (1984) 0.90
Catabolic rate of alpha1-antitrypsin of of Pi types S, and MMalton and of asialylated M-protein in man. Clin Sci Mol Med (1978) 0.89
COMMD1 (MURR1) as a candidate in patients with copper storage disease of undefined etiology. Clin Genet (2005) 0.89
Localization and genetic linkage of the human immunoglobulin heavy chain genes and the creatine kinase brain (CKB) gene: identification of a hot spot for recombination. Genomics (1991) 0.89
31P nuclear-magnetic-resonance studies on superfused cerebral tissues. Biochem Soc Trans (1985) 0.89
Maternal uniparental isodisomy of human chromosome 14 associated with a paternal t(13q14q) and precocious puberty. Eur J Hum Genet (1996) 0.89
In-frame single codon deletion in the Mmalton deficiency allele of alpha 1-antitrypsin. Am J Hum Genet (1989) 0.89
Sacrospinous ligament fixation at the time of transvaginal hysterectomy. Am J Obstet Gynecol (1990) 0.88
Interaction between variant apolipoproteins C-II and E that affects plasma lipoprotein concentrations. Arterioscler Thromb (1991) 0.88
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
A (CA)n repeat polymorphism at the 5' end of the alpha 1-antitrypsin gene (PI). Hum Mol Genet (1993) 0.87
Application of inverse PCR to isolation of end probes from cosmids. Nucleic Acids Res (1994) 0.87
Deletion/frameshift mutation in the alpha 1-antitrypsin null allele, PI*QObolton. Hum Genet (1989) 0.87
Molecular analysis of three patients with interstitial deletions of chromosome band 14q31. J Med Genet (1995) 0.87
31P-saturation-transfer nuclear-magnetic-resonance measurements of phosphocreatine turnover in guinea-pig brain slices. Biochem J (1985) 0.87
Direct assignment of orosomucoid to human chromosome 9 and alpha 2HS-glycoprotein to chromosome 3 using human fetal liver x rat hepatoma hybrids. Hum Genet (1985) 0.86
Aggregation of plasma Z type alpha 1-antitrypsin suggests basic defect for the deficiency. FEBS Lett (1986) 0.86
A multigene deletion within the immunoglobulin heavy-chain region. Am J Hum Genet (1985) 0.86
Isolation of new probes in the region of the Wilson disease locus, 13q14.2-->q14.3. Cytogenet Cell Genet (1993) 0.86
Susceptibility to multiple sclerosis is associated with the proximal immunoglobulin heavy chain variable region. J Clin Invest (1991) 0.86
Apolipoprotein and lipoprotein concentrations in familial apolipoprotein C-II deficiency. Atherosclerosis (1982) 0.85
Immunoglobulin (Gm) markers and alpha 1-antitrypsin (PI) types in rheumatoid arthritis and early onset chronic active hepatitis. J Immunogenet (1984) 0.85
Use of human menopausal gonadotropin for the induction of ovulation. Am J Obstet Gynecol (1974) 0.85
Occurrence of alpha-1-antitrypsin deficiency in 155 patients with alcoholic liver disease. Am J Clin Pathol (1984) 0.85
Genetic polymorphism of alpha 2HS-glycoprotein. Am J Hum Genet (1986) 0.84
Mapping of human immunoglobulin heavy chain variable gene segments outside the major IGH locus. Genomics (1994) 0.84
Current status of human chromosome 14. J Med Genet (2002) 0.84
Functional assessment of genetic variants of alpha 1-antitrypsin. Hum Genet (1982) 0.84