1342C mutation in Gaucher's disease
Author:
Publisher
Elsevier BV
Subject
General Medicine
Reference4 articles.
1. Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation;Chabas;J Med Genet,1995
2. Genotype/phenotype correlations in Gaucher's disease;Mistry;Lancet,1995
3. Heterogeneity in type 1 Gaucher's disease demonstrated by restriction mapping of the gene;Sorge;Proc Natl Acad Sci USA,1985
4. Tight linkage of pyruvate kinase (PKLR) and glucocerebrosidase (GBA) genes;Glenn;Hum Genet,1994
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