Published in Lancet on May 11, 1985
Alu polymerase chain reaction: a method for rapid isolation of human-specific sequences from complex DNA sources. Proc Natl Acad Sci U S A (1989) 8.68
A new polymorphism in the factor VIII gene for prenatal diagnosis of hemophilia A. Nucleic Acids Res (1986) 1.74
First trimester prenatal diagnosis and detection of carriers of haemophilia A using the linked DNA probe DX13. Br Med J (Clin Res Ed) (1985) 1.26
Applications and limitations of direct DNA analysis in genetic prediction. J Inherit Metab Dis (1986) 0.90
Application of three intragenic DNA polymorphisms for carrier detection in haemophilia B. J Med Genet (1986) 0.77
The isolation and characterization of linked delta- and beta-globin genes from a cloned library of human DNA. Cell (1978) 22.88
The structure and evolution of the human beta-globin gene family. Cell (1980) 21.24
An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. Application to hemophilia A. N Engl J Med (1987) 14.37
Base composition-independent hybridization in tetramethylammonium chloride: a method for oligonucleotide screening of highly complex gene libraries. Proc Natl Acad Sci U S A (1985) 13.19
Human lipoprotein lipase complementary DNA sequence. Science (1987) 9.50
The nucleotide sequence of the human beta-globin gene. Cell (1980) 8.11
Molecular cloning and characterization of the human beta-like globin gene cluster. Cell (1980) 7.77
The hemophilias--from royal genes to gene therapy. N Engl J Med (2001) 5.62
Characterization of the human factor VIII gene. Nature (1984) 5.37
A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. Nat Genet (2001) 5.34
Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. Nat Genet (1993) 4.93
The molecular genetics of human hemoglobins. Annu Rev Genet (1980) 4.67
cDNA sequence of human apolipoprotein(a) is homologous to plasminogen. Nature (1987) 4.54
The structure of eight distinct cloned human leukocyte interferon cDNAs. Nature (1981) 4.50
Expression of active human factor VIII from recombinant DNA clones. Nature (1984) 4.36
Characterisation of deletions which affect the expression of fetal globin genes in man. Nature (1979) 4.18
Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nat Genet (1993) 4.12
Biopsy of human preimplantation embryos and sexing by DNA amplification. Lancet (1989) 3.40
Hephaestin, a ceruloplasmin homologue implicated in intestinal iron transport, is defective in the sla mouse. Nat Genet (1999) 3.30
Absolute pitch: an approach for identification of genetic and nongenetic components. Am J Hum Genet (1998) 3.29
Structure of human factor VIII. Nature (1984) 3.29
Stress response protein (srp-27) determination in primary human breast carcinomas: clinical, histologic, and prognostic correlations. J Natl Cancer Inst (1991) 3.07
The sequence of human serum albumin cDNA and its expression in E. coli. Nucleic Acids Res (1981) 2.97
ABCA1 is the cAMP-inducible apolipoprotein receptor that mediates cholesterol secretion from macrophages. J Biol Chem (2000) 2.82
Human apolipoprotein D gene: gene sequence, chromosome localization, and homology to the alpha 2u-globulin superfamily. DNA (1987) 2.67
Genetic mapping and diagnosis of haemophilia A achieved through a BclI polymorphism in the factor VIII gene. Nature (1985) 2.61
Neurodegeneration associated with genetic defects in phospholipase A(2). Neurology (2008) 2.57
The serum concentration of active transforming growth factor-beta is severely depressed in advanced atherosclerosis. Nat Med (1995) 2.42
Editing of errors in selection of amino acids for protein synthesis. Microbiol Rev (1992) 2.41
Detection and sequence of mutations in the factor VIII gene of haemophiliacs. Nature (1985) 2.30
A gene for hereditary haemorrhagic telangiectasia maps to chromosome 9q3. Nat Genet (1994) 2.26
Analysis of host range of nontransforming polyoma virus mutants. Virology (1975) 2.18
Construction and characterization of an active factor VIII variant lacking the central one-third of the molecule. Biochemistry (1986) 2.14
Chromosomal localization of human leukocyte, fibroblast, and immune interferon genes by means of in situ hybridization. Proc Natl Acad Sci U S A (1982) 2.08
ABCA1. The gatekeeper for eliminating excess tissue cholesterol. J Lipid Res (2001) 2.08
Effects of consecutive AGG codons on translation in Escherichia coli, demonstrated with a versatile codon test system. J Bacteriol (1993) 2.05
hCTR1: a human gene for copper uptake identified by complementation in yeast. Proc Natl Acad Sci U S A (1997) 2.04
Human fibroblast interferon gene lacks introns. Nucleic Acids Res (1981) 1.98
Leukocyte and fibroblast interferon genes are located on human chromosome 9. Proc Natl Acad Sci U S A (1981) 1.98
Mapping of human chromosome Xq28 by two-color fluorescence in situ hybridization of DNA sequences to interphase cell nuclei. Am J Hum Genet (1991) 1.93
The copper transporter CTR1 provides an essential function in mammalian embryonic development. Proc Natl Acad Sci U S A (2001) 1.90
Molecular genetics of human serum albumin: restriction enzyme fragment length polymorphisms and analbuminemia. Proc Natl Acad Sci U S A (1983) 1.89
A novel gene involved in zinc transport is deficient in the lethal milk mouse. Nat Genet (1997) 1.88
Activation of transforming growth factor-beta is inhibited in transgenic apolipoprotein(a) mice. Nature (1994) 1.87
ABC1 gene expression and ApoA-I-mediated cholesterol efflux are regulated by LXR. Biochem Biophys Res Commun (2000) 1.86
Characterization of a murine homeo box gene, Hox-2.6, related to the Drosophila Deformed gene. Genes Dev (1988) 1.75
The gene-size DNA molecules in Oxytricha. Cold Spring Harb Symp Quant Biol (1978) 1.75
A new polymorphism in the factor VIII gene for prenatal diagnosis of hemophilia A. Nucleic Acids Res (1986) 1.74
The factor VIII Structure and Mutation Resource Site: HAMSTeRS version 4. Nucleic Acids Res (1998) 1.66
Enhanced thrombin generation in patients with cirrhosis-induced coagulopathy. J Thromb Haemost (2010) 1.62
The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency. Nat Genet (1999) 1.62
Partial amino acid sequence of apolipoprotein(a) shows that it is homologous to plasminogen. Proc Natl Acad Sci U S A (1987) 1.61
The mottled gene is the mouse homologue of the Menkes disease gene. Nat Genet (1994) 1.61
Diverse mutations in patients with Menkes disease often lead to exon skipping. Am J Hum Genet (1994) 1.60
Identification of a missense mutation in the factor VIII gene of a mild hemophiliac. Science (1986) 1.60
Brain MRI in neurodegeneration with brain iron accumulation with and without PANK2 mutations. AJNR Am J Neuroradiol (2006) 1.59
Factor VIII gene inversions in severe hemophilia A: results of an international consortium study. Blood (1995) 1.59
DNA sequence of two closely linked human leukocyte interferon genes. Science (1981) 1.57
Quantities of individual aminoacyl-tRNA families and their turnover in Escherichia coli. J Bacteriol (1984) 1.56
Cloning and expression of the cDNA for human antithrombin III. Nucleic Acids Res (1982) 1.55
Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus. Nat Genet (1992) 1.54
Epidemiology of coagulation disorders. Baillieres Clin Haematol (1992) 1.53
DNA sequence of a major human leukocyte interferon gene. Proc Natl Acad Sci U S A (1981) 1.53
Molecular etiology of factor VIII deficiency in hemophilia A. Hum Mutat (1995) 1.53
Apolipoprotein(a) size heterogeneity is related to variable number of repeat sequences in its mRNA. Biochemistry (1990) 1.51
Determination of temporal expression patterns for multiple genes in the rat carotid artery injury model. Arterioscler Thromb Vasc Biol (2000) 1.51
Distribution of factor VIII mRNA and antigen in human liver and other tissues. Nature (1985) 1.51
Two polymorphisms in the human lipoprotein lipase (LPL) gene. Nucleic Acids Res (1987) 1.51
A novel missense mutation in the factor VIII gene identified by analysis of amplified hemophilia DNA sequences. Nucleic Acids Res (1987) 1.50
Reconstitution of lipoprotein(a) by infusion of human low density lipoprotein into transgenic mice expressing human apolipoprotein(a). J Biol Chem (1992) 1.45
Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse. Am J Hum Genet (1995) 1.44
Crystal structure of the extracellular region of human tissue factor. Nature (1994) 1.43
Expression of human apolipoprotein B and assembly of lipoprotein(a) in transgenic mice. Proc Natl Acad Sci U S A (1994) 1.42
Developmental expression of the mouse mottled and toxic milk genes suggests distinct functions for the Menkes and Wilson disease copper transporters. Hum Mol Genet (1997) 1.40
Proliferation of human smooth muscle cells promoted by lipoprotein(a). Science (1993) 1.40
Low-usage codons in Escherichia coli, yeast, fruit fly and primates. Gene (1991) 1.39
Thrombophilia: a new factor emerges from the mists. Lancet (1994) 1.38
The organization of repetitive sequences in mammalian globin gene clusters. Cold Spring Harb Symp Quant Biol (1981) 1.37
A molecular model for the triplicated A domains of human factor VIII based on the crystal structure of human ceruloplasmin. Blood (1997) 1.37
Gene-sized DNA molecules of the Oxytricha macronucleus have the same terminal sequence. Proc Natl Acad Sci U S A (1977) 1.34
A clinically useful DNA probe closely linked to haemophilia A. Lancet (1984) 1.33
Genetic linkage between lipoprotein(a) phenotype and a DNA polymorphism in the plasminogen gene. Genomics (1988) 1.31
Familial pulmonary fibrosis associated with oculocutaneous albinism and platelet function defect. A new syndrome. Q J Med (1976) 1.31
Increased ribosomal accuracy increases a programmed translational frameshift in Escherichia coli. Proc Natl Acad Sci U S A (1993) 1.30
The regulation of tissue factor mRNA in human endothelial cells in response to endotoxin or phorbol ester. J Biol Chem (1990) 1.28
Mammalian cell transient expression of tissue factor for the production of antigen. Protein Eng (1990) 1.28
An interactive mutation database for human coagulation factor IX provides novel insights into the phenotypes and genetics of hemophilia B. J Thromb Haemost (2013) 1.28