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Article

Novel mutation, L371V, causing multigenerational Gaucher disease in a Lebanese family.

American journal of medical genetics. Part A - 15 Mar 2004

Shamseddine A, Taher A, Fakhani S, Zhang M, Scott C Ronald, Habbal M Z

Abstract excerpt

We have identified six individuals over three generations within a Lebanese-Arab family affected with Gaucher disease. This family is unusual and informative because affected members are homozygous for a previously unidentified mutation, L371V. Clinical symptoms begin in early childhood and progress to moderately severe involvement by young adulthood. There is significant anemia, thrombocytopenia, and bony...

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Identifiers

PMID: 14994233
DOI: 10.1002/ajmg.a.20518

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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