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PMID: 10090913 Published · ppublish English Letter Research Support, Non-U.S. Gov't

Gaucher disease: the N370S mutation in Ashkenazi Jewish and Spanish patients has a common origin and arose several thousand years ago.

American journal of human genetics ·Vol. 64 ·No. 4 ·1999-04-00 ·Pages 1233-8

Díaz A, Montfort M, Cormand B, Zeng B, Pastores GM, Chabás A, Vilageliu L, Grinberg D

Abstract

暂无摘要

MeSH Terms

Amino Acid Substitution/genetics Chromosomes, Human, Pair 1/genetics Female Gaucher Disease/genetics Gene Frequency Glucosylceramidase/genetics Haplotypes/genetics Humans Jews/genetics Linkage Disequilibrium/genetics Male Mutation/genetics Polymorphism, Genetic/genetics Recombination, Genetic/genetics Spain Time Factors

Chemicals

Glucosylceramidase

Authors & Affiliations

8 authors, click to expand affiliations / ORCID

Díaz A

Montfort M

Cormand B

Zeng B

Pastores G M

Chabás A

Vilageliu L

Grinberg D

Article Info

Journal

American journal of human genetics

Abbr.

Am J Hum Genet

ISSN

0002-9297

DOI

10.1086/302341

Published

1999-04-00

Pages

1233-8

Language

English

Region

United States

NLM ID

0370475

PMCID

PMC1377852

Subset

Corrections

CommentIn

PMID: 10801390

External Links

PubMed source DOI: 10.1086/302341 PMC Full Text View journal details

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Gaucher disease: the N370S mutation in Ashkenazi Jewish and Spanish patients has a common origin and arose several thousand years ago.

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