Genetic diagnosis of Gaucher's disease

Author:

Mistry P.K.,Smith S.J.,Ali M.,Cox T.M.,Hatton C.S.R.,McIntyre N.

Publisher

Elsevier BV

Subject

General Medicine

Reference25 articles.

1. Gaucher's disease;Beutler;N Engl J Med,1991

2. High frequency of the Gaucher's disease mutation at nt 1226 among Ashkenazi Jews;Zimran;Am J Hum Genet,1991

3. The metabolism of sphingomyelin II: evidence of an enzymatic deficiency in Gaucher's disease;Brady;Biochem Biophys Res Commun,1965

4. Prediction of severity of Gaucher's disease by identification of mutations at DNA level;Zimran;Lancet,1989

5. Identification of the second common Jewish Gaucher's disease mutation makes possible population-based screening for the heterozygous state;Beutler;Proc Natl Acad Sci USA,1991

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