Published in Ann Hum Genet on May 01, 1987
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Isolation of a further anonymous informative DNA sequence from chromosome seven closely linked to cystic fibrosis. Nucleic Acids Res (1986) 2.34
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Prenatal diagnosis of cystic fibrosis by DNA amplification for detection of KM-19 polymorphism. Lancet (1988) 2.13
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A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment. J Med Genet (2005) 2.11
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Isolation of cDNA and genomic clones encoding human pro-alpha 1 (III) collagen. Partial characterization of the 3' end region of the gene. J Biol Chem (1985) 2.09
Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities. Hum Mol Genet (2001) 2.08
Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database. Ann Hum Genet (2008) 2.05
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Structure of the human fetal globin gene locus. Nature (1979) 2.02
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Predisposing locus for Alzheimer's disease on chromosome 21. Lancet (1989) 1.99
Assignment of the human pro alpha 2(I) collagen structural gene (COLIA2) to chromosome 7 by molecular hybridization. Am J Hum Genet (1982) 1.98
Isolation of a new DNA marker in linkage disequilibrium with cystic fibrosis, situated between J3.11 (D7S8) and IRP. Am J Hum Genet (1989) 1.97
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Cuff failure--a complication of tracheal intubation. Anaesthesia (1991) 1.95
Simple repeat sequences on the human Y chromosome are equally polymorphic as their autosomal counterparts. Hum Genet (1992) 1.94
A long-range restriction map of the human chromosome 19q13 region: close physical linkage between CKMM and the ERCC1 and ERCC2 genes. Am J Hum Genet (1990) 1.94
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