Identification of mutation in NPC2 by exome sequencing results in diagnosis of Niemann–Pick disease type C-Reference-Cited by-同舟云学术

Identification of mutation in NPC2 by exome sequencing results in diagnosis of Niemann–Pick disease type C

Published:2013-09 Issue:1-2 Volume:110 Page:139-144
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Alavi Afagh,Nafissi Shahriar,Shamshiri Hosein,Nejad Maryam Malakooti,Elahi Elahe

Funder

Iran National Science Foundation

Publisher

Elsevier BV

Subject

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

Reference45 articles.

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4. Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs;Schuchman;J. Biol. Chem.,1991

5. Niemann–Pick C1 disease gene: homology to mediators of cholesterol homeostasis;Carstea;Science,1997

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