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Clinical Genetics|August 25, 2004
A previously undescribed frameshift deletion mutation of HFE (c.del277; G93fs) associated with hemochromatosis and iron overload in a C282Y heterozygoteJ C Barton, C West, P L Lee, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 1, 1985
Heterogeneity in type I Gaucher disease demonstrated by restriction mapping of the geneJ Sorge, T Gelbart, C West, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 1, 1991
Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous stateE Beutler, T Gelbart, W Kuhl, et al.
Blood Cells, Molecules & Diseases|March 28, 1998
Glucosephosphate isomerase (GPI) deficiency mutations associated with hereditary nonspherocytic hemolytic anemia (HNSHA)E Beutler, C West, H A Britton, et al.
Blood Cells, Molecules & Diseases|June 27, 1998
The human Nramp2 gene: characterization of the gene structure, alternative splicing, promoter region and polymorphismsP L Lee, T Gelbart, C West, et al.
American Journal of Human Genetics|December 1, 1987
The human glucocerebrosidase gene has two functional ATG initiator codonsJ A Sorge, C West, W Kuhl, et al.
Blood Cells, Molecules & Diseases|May 19, 2001
The hHFE gene of browsing and grazing rhinoceroses: a possible site of adaptation to a low-iron dietE Beutler, C West, J A Speir, et al.
The Journal of Clinical Investigation|January 1, 1990
A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorderA Zimran, J Sorge, E Gross, et al.
Lancet (London, England)|August 12, 1989
Prediction of severity of Gaucher's disease by identification of mutations at DNA levelA Zimran, J Sorge, E Gross, et al.
Genomics|July 15, 1997
Three genes encoding zinc finger proteins on human chromosome 6p21.3: members of a new subclass of the Kruppel gene family containing the conserved SCAN box domainP L Lee, T Gelbart, C West, et al.
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