Commentary on "The 1604A (R496H) mutation in Gaucher disease: Genotype/phenotype correlation," by Brautbar et al.

Blood Cells, Molecules, and Diseases

Volumn 31, Issue 2, 2003, Pages 190-191

  Allitto, Bernice A ^a   Sugarman, Elaine A ^a  

^a Genzyme Genetics   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CORRELATION ANALYSIS; DISEASE SEVERITY; GAUCHER DISEASE; GENE FREQUENCY; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOSITY; HUMAN; MUTATION RATE; NOTE; PHENOTYPE; PRIORITY JOURNAL; SCREENING TEST; ALLELE; POPULATION GENETIC PARAMETERS; UNITED STATES;

EID: 0042737739     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1079-9796(03)00127-X     Document Type: Note

References (7)

1. A. Brautbar, D. Elstein, A. Abrahamov, M. Zeigler, G. Chicco, E. Beutler, R. Scott, A. Zimran, The 1604A (R496H) mutation in Gaucher disease: genotype/phenotype correlation. Blood Cells Mol. Dis. (2003).
2. Horowitz M., Tzuri G., Eyal N., Berebi A., Kolodny E.H., Brady R.O., Barton N.W., Abrahamov A., Zimran A. Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients. Am. J. Hum. Genet. 53:1993;921-930.
3. Beutler E., Gelbart T., Kuhl W., Zimran A., West C. Mutations in Jewish patients with Gaucher disease. Blood. 79:1992;1662-1666.
4. Allitto B.A., Finn P.B., Napolitano N.M., Sytsma M.L., Sugarman E.A., Ekstein J., Miller G., Shuber A.P. Prevalence of the 1604A Gaucher disease mutation in unaffected Ashkenazi Jewish individuals. Am. J. Hum. Genet. 61:(4 Suppl.):1997;A325.
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6. Rohlfs E.M., Zhou Z., Sugarman E.A., Heim R.A., Pace R.G., Knowles M.R., Silverman L.M., Allitto B.A. The I148T CFTR allele occurs on multiple haplotypes a complex allele is associated with cystic fibrosis . Genet. Med. 4:2002;319-323.
7. Kiesewetter S., Macek M., Davis C., Curristin S.M., Chu C.-S., Graham C., Shrimpton A.E., Cashman S.M., Tsui L.-C., Mickle J., Amos J., Highsmith W.E., Shuber A., Witt D.R., Crystal R.G., Cutting G.R. A mutation in CFTR produces different phenotypes depending on chromosomal background. Nat. Genet. 5:1993;274-278.