Published in Am J Hum Genet on June 01, 1989
Alpha 1-antitrypsin deficiency: memorandum from a WHO meeting. Bull World Health Organ (1997) 1.66
Gene transfer of master autophagy regulator TFEB results in clearance of toxic protein and correction of hepatic disease in alpha-1-anti-trypsin deficiency. EMBO Mol Med (2013) 1.22
In-frame single codon deletion in the Mmalton deficiency allele of alpha 1-antitrypsin. Am J Hum Genet (1989) 0.89
Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadrid. Respir Res (2014) 0.85
A null deficiency allele of alpha 1-antitrypsin, QOludwigshafen, with altered tertiary structure. J Clin Invest (1990) 0.82
Application of a diagnostic algorithm for the rare deficient variant Mmalton of alpha-1-antitrypsin deficiency: a new approach. Int J Chron Obstruct Pulmon Dis (2016) 0.75
Deficient and Null Variants of SERPINA1 Are Proteotoxic in a Caenorhabditis elegans Model of α1-Antitrypsin Deficiency. PLoS One (2015) 0.75
Erdj3 has an essential role for Z variant Alpha-1-Antitrypsin Degradation. J Cell Biochem (2017) 0.75
Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol (1975) 503.08
Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science (1988) 220.77
Quantitative estimation of proteins by electrophoresis in agarose gel containing antibodies. Anal Biochem (1966) 21.70
Cirrhosis associated with alpha-1-antitrypsin deficiency: a previously unrecognized inherited disorder. J Lab Clin Med (1969) 5.40
alpha 1-antitrypsin deficiency detection by direct analysis of the mutation in the gene. Nature (1983) 4.38
DNA banking: the effects of storage of blood and isolated DNA on the integrity of DNA. Am J Med Genet (1987) 4.09
Molecular basis of alpha-1-antitrypsin deficiency. Am J Med (1988) 2.40
Agarose gel electrophoresis. Scand J Clin Lab Invest Suppl (1972) 2.32
A frameshift mutation results in a truncated alpha 1-antitrypsin that is retained within the rough endoplasmic reticulum. J Biol Chem (1988) 2.11
DNA restriction fragments associated with alpha 1-antitrypsin indicate a single origin for deficiency allele PI Z. Nature (1985) 2.03
Report of Nomenclature Meeting for alpha 1-antitrypsin, INSERM, Rouen/Bois-Guillaume-1978. Hum Genet (1980) 1.66
Typing of genetic variants of alpha 1-antitrypsin by electrofocusing. Clin Chem (1982) 1.59
1 -Antitrypsin deficiency: a variant with no detectable 1 -antitrypsin. Science (1973) 1.53
Detection of alpha 1-antitrypsin genotypes by analysis of amplified DNA sequences. Nucleic Acids Res (1988) 1.45
Alpha 1-antitrypsin deficiency and emphysema caused by homozygous inheritance of non-expressing alpha 1-antitrypsin genes. N Engl J Med (1986) 1.41
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
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
A new deficient variant of alpha1-antitrypsin (MDUARTE). Inability to detect the heterozygous state by antitrypsin phenotyping. Am Rev Respir Dis (1976) 1.29
Properties of isolated human alpha1-antitrypsins of Pi types M, S and Z. Eur J Biochem (1978) 1.28
Protease inhibitors in patients with chronic obstructive pulmonary disease: the alpha-antitrypsin heterozygote controversy. Am Rev Respir Dis (1976) 1.24
alpha 1-Antitrypsin nullGranite Falls, a nonexpressing alpha 1-antitrypsin gene associated with a frameshift to stop mutation in a coding exon. J Biol Chem (1987) 1.24
Antitrypsin phenotypes in St. Louis. JAMA (1975) 1.17
Alpha-1-antitrypsin: evidence for a fifth PI M subtype and a new deficiency allele PI*Z augsburg. Hum Genet (1985) 1.11
DNA restriction-site polymorphisms associated with the alpha 1-antitrypsin gene. Am J Hum Genet (1987) 1.05
Emphysema of early onset associated with a complete deficiency of alpha-1-antitrypsin (null homozygotes). Am Rev Respir Dis (1988) 1.04
DNA polymorphisms of the human alpha 1 antitrypsin gene in normal subjects and in patients with pulmonary emphysema. J Med Genet (1987) 1.02
The ultrastructure of hepatocytes in alpha-1-antitrypsin deficiency with the genotype Pi--. Gut (1975) 1.01
Alpha1-antitrypsin deficiency with M-like phenotype. J Med Genet (1977) 0.99
Characterization of the gene and protein of the alpha 1-antitrypsin "deficiency" allele Mprocida. J Biol Chem (1988) 0.97
PiMheerlen, alpha PiM allele resulting in very low alpha 1-antitrypsin serum levels. Hum Genet (1981) 0.91
In-frame single codon deletion in the Mmalton deficiency allele of alpha 1-antitrypsin. Am J Hum Genet (1989) 0.89
Mass screening of newborn Swedish infants for alpha antitrypsin deficiency. Am J Hum Genet (1975) 0.88
Aggregation of plasma Z type alpha 1-antitrypsin suggests basic defect for the deficiency. FEBS Lett (1986) 0.86
Occurrence of alpha-1-antitrypsin deficiency in 155 patients with alcoholic liver disease. Am J Clin Pathol (1984) 0.85
Complete absence of serum alpha-1-antitrypsin in conjunction with an apparently normal gene structure. Am J Hum Genet (1986) 0.85
Does alpha-1-antitrypsin P1 null phenotype exist? Humangenetik (1975) 0.85
Bgl II polymorphism for the alpha 1-antitrypsin-related gene on chromosome 14. Nucleic Acids Res (1987) 0.79
An unusual type of alpha1-antitrypsin deficiency in a child. Johns Hopkins Med J (1979) 0.77
The gamma-crystallins and human cataracts: a puzzle made clearer. Am J Hum Genet (1999) 2.81
Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25. Eur J Hum Genet (2000) 1.38
DNA restriction-site polymorphisms associated with the alpha 1-antitrypsin gene. Am J Hum Genet (1987) 1.05
Emphysema of early onset associated with a complete deficiency of alpha-1-antitrypsin (null homozygotes). Am Rev Respir Dis (1988) 1.04
Restriction enzyme MaeIII for prenatal diagnosis of alpha 1-antitrypsin deficiency. Lancet (1986) 0.94
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
Aggregation of plasma Z type alpha 1-antitrypsin suggests basic defect for the deficiency. FEBS Lett (1986) 0.86
Functional assessment of genetic variants of alpha 1-antitrypsin. Hum Genet (1982) 0.84
A linkage map of human chromosome 14, including 13 gene loci. Genomics (1994) 0.82
Oxidation of plasma alpha 1-antitrypsin in smokers and nonsmokers and by an oxidizing agent. Am Rev Respir Dis (1984) 0.76
CEPH consortium map of chromosome 14. Cytogenet Cell Genet (1995) 0.75
An RFLP associated with the human T-cell antigen receptor alpha chain locus. Nucleic Acids Res (1987) 0.75
Human Myiasis: Hypoderma Bovis De G. Cal West Med (1938) 0.75
Functional assay of alpha 1-antitrypsin in obstructive lung disease. Am Rev Respir Dis (1980) 0.75