Mucolipidosis type IV: NovelMCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population-Reference-Cited by-同舟云学术

Mucolipidosis type IV: NovelMCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population

Published:2001 Issue:5 Volume:17 Page:397-402
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Bargal Ruth,Avidan Nili,Olender Tzvia,Ben Asher Edna,Zeigler Marcia,Raas-Rothschild Annick,Frumkin Ayala,Ben-Yoseph Omer,Friedlender Yechiel,Lancet Doron,Bach Gideon

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference19 articles.

1. Recommendations for a nomenclature system for human gene mutations

2. 1992. Lysosomal storage disorders among Jews. In: editors. Genetic diversity among Jews. New York: Oxford University Press. p 301-304.

3. Identification of the gene causing mucolipidosis type IV

4. Cloning of the Gene Encoding a Novel Integral Membrane Protein, Mucolipidin—and Identification of the Two Major Founder Mutations Causing Mucolipidosis Type IV

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