Molecular genetics of the POMT1-related muscular dystrophy-dystroglycanopathies-Reference-Cited by-同舟云学术

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Molecular genetics of the POMT1-related muscular dystrophy-dystroglycanopathies

Published:2018-10 Issue: Volume:778 Page:45-50
ISSN:1383-5742
Container-title:Mutation Research/Reviews in Mutation Research
language:en
Short-container-title:Mutation Research/Reviews in Mutation Research

Author:

Hu Pengzhi,Yuan Lamei,Deng Hao

Funder

National Key Research and Development Program of China

Key Research and Development Program of Hunan Province

Foster Key Subject of the Third Xiangya Hospital Clinical Laboratory Diagnostics (H.D.)

New Xiangya Talent Project of the Third Xiangya Hospital of Central South University

Publisher

Elsevier BV

Subject

Health, Toxicology and Mutagenesis,Genetics

Reference64 articles.

1. Identification of a human homolog of the drosophila rotated abdomen gene (POMT1) encoding a putative protein O-mannosyl-transferase, and assignment to human chromosome 9q34.1;Jurado;Genomics,1999

2. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome;Beltran-Valero de Bernabe;Am. J. Hum. Genet.,2002

3. Different roles of the two components of human protein O-mannosyltransferase, POMT1 and POMT2;Akasaka-Manya;Biochem. Biophys. Res. Commun.,2011

4. Glyc-O-genetics of Walker-Warburg syndrome;van Reeuwijk;Clin. Genet.,2005

5. Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome;Currier;Am. J. Med. Genet. A,2005

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