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Article

The 1604A (R496H) mutation in Gaucher disease: genotype/phenotype correlation.

Blood cells, molecules & diseases - 1 Jan 2000

Brautbar Ariel, Elstein Deborah, Abrahamov Aya, Zeigler Marsha, Chicco Gaya, Beutler Ernest, Scott C Ronald, Zimran Ari

Abstract excerpt

Gaucher disease is the most common sphingolipid storage disease but genotype only broadly predicts phenotype. The 1604G-->A (1604A;R496H) mutation has been described as having a low incidence among Ashkenazi Jews. The purpose of this study was to ascertain phenotypic expression and prevalence of this mutation among patients with Gaucher disease and among healthy Ashkenazi Jews. Patients in two Gaucher clinics (in...

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PMID: 12972024
DOI: 10.1016/s1079-9796(03)00126-8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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