Detection of an Alu insertion in the POMT1 gene from three French Walker Warburg syndrome families-Reference-Cited by-同舟云学术

Detection of an Alu insertion in the POMT1 gene from three French Walker Warburg syndrome families

Published:2007-01 Issue:1 Volume:90 Page:93-96
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Bouchet C.,Vuillaumier-Barrot S.,Gonzales M.,Boukari S.,Bizec C. Le,Fallet C.,Delezoide A.-L.,Moirot H.,Laquerriere A.,Encha-Razavi F.,Durand G.,Seta N.

Publisher

Elsevier BV

Subject

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

Reference11 articles.

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

3. POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker Warburg syndrome;van Reeuwijk;J. Med. Genet.,2005

4. 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

5. Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity;Manya;Proc. Natl. Acad. Sci. USA,2004

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