An Ethyl-Nitrosourea-Induced Point Mutation in Phex Causes Exon Skipping, X-Linked Hypophosphatemia, and Rickets-Reference-Cited by-同舟云学术

An Ethyl-Nitrosourea-Induced Point Mutation in Phex Causes Exon Skipping, X-Linked Hypophosphatemia, and Rickets

Published:2002-11 Issue:5 Volume:161 Page:1925-1933
ISSN:0002-9440
Container-title:The American Journal of Pathology
language:en
Short-container-title:The American Journal of Pathology

Author:

Carpinelli Marina R.,Wicks Ian P.,Sims Natalie A.,O'Donnell Kristy,Hanzinikolas Katherine,Burt Rachel,Foote Simon J.,Bahlo Melanie,Alexander Warren S.,Hilton Douglas J.

Publisher

Elsevier BV

Subject

Pathology and Forensic Medicine

Reference26 articles.

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3. A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets;Francis;Nat Genet,1995

4. Mutational analysis of PHEX gene in X-linked hypophosphatemia;Dixon;J Clin Endocrinol Metab,1998

5. Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues;Filisetti;Eur J Human Genet,1999

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