Mutation analysis of an Ashkenazi Jewish family with gaucher disease in three successive generations-Reference-Cited by-同舟云学术

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Mutation analysis of an Ashkenazi Jewish family with gaucher disease in three successive generations

Published:1990-08 Issue:4 Volume:36 Page:467-472
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Kolodny Edwin H.,Firon Nurit,Eyal Nurit,Horowitz Mia

Publisher

Wiley

Subject

Genetics (clinical)

Reference24 articles.

1. Intrafamilial clinical variability of type 1 Gaucher disease in a French-Canadian family.

2. Human acid beta-glucosidase: isolation and amino acid sequence of a peptide containing the catalytic site.

Cited by 11 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Three cases of multi-generational Gaucher disease and colon cancer from an Ashkenazi Jewish family: A lesson for cascade screening;Molecular Genetics and Metabolism Reports;2019-03

2. Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations;The Journal of Pediatrics;2004-01

3. Gaucher Disease;Archives of Internal Medicine;1998-09-14

4. Speicherkrankheiten;Neurogenetik;1998

5. The Glucocerebrosidase D409H Mutation in Gaucher Disease;Biochemical and Molecular Medicine;1996-12

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