Type 2 Gaucher Disease with Hydrops Fetalis in an Ashkenazi Jewish Family Resulting from a Novel Recombinant Allele and a Rare Splice Junction Mutation in the Glucocerebrosidase Locus-Reference-Cited by-同舟云学术

Type 2 Gaucher Disease with Hydrops Fetalis in an Ashkenazi Jewish Family Resulting from a Novel Recombinant Allele and a Rare Splice Junction Mutation in the Glucocerebrosidase Locus

Published:1998-04 Issue:4 Volume:63 Page:281-288
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Reissner K.,Tayebi N.,Stubblefield B.K.,Koprivica V.,Blitzer M.,Holleran W.,Cowan T.,Almashanu S.,Maddalena A.,Karson E.M.,Sidransky E.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference20 articles.

1. Glucosylceramide lipidoses: Gaucher disease;Barranger,1989

2. Gaucher disease;Beutler,1995

3. Hematologically important mutations: Gaucher disease;Beutler;Blood Cells, Molecules, Dis.,1997

4. Gaucher Disease

5. Clinical heterogeneity among patients with Gaucher's disease;Sidransky;JAMA,1993

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