Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia-Reference-Cited by-同舟云学术

Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia

Published:2008-06-29 Issue:8 Volume:40 Page:999-1003
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Rock Matthew J,Prenen Jean,Funari Vincent A,Funari Tara L,Merriman Barry,Nelson Stanley F,Lachman Ralph S,Wilcox William R,Reyno Soraya,Quadrelli Roberto,Vaglio Alicia,Owsianik Grzegorz,Janssens Annelies,Voets Thomas,Ikegawa Shiro,Nagai Toshiro,Rimoin David L,Nilius Bernd,Cohn Daniel H

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.166.pdf

Reference30 articles.

1. Shohat, M., Lachman, R., Gruber, H.E. & Rimoin, D.L. Brachyolmia: radiographic and genetic evidence of heterogeneity. Am. J. Med. Genet. 33, 209–219 (1989).

2. Kornak, U. & Mundlos, S. Genetic disorders of the skeleton: a developmental approach. Am. J. Hum. Genet. 73, 447–474 (2003).

3. Superti-Furga, A., Bonafe, L. & Rimoin, D.L. Molecular-pathogenetic classification of genetic disorders of the skeleton. Am. J. Med. Genet. 106, 282–293 (2001).

4. Horton, W.A., Langer, L.O., Collins, D.L. & Dwyer, C. Brachyolmia, recessive type (Hobaek): a clinical, radiographic, and histochemical study. Am. J. Med. Genet. 16, 201–211 (1983).

5. Toledo, S.P.A. et al. Recessively inherited, late onset spondylar dysplasia and peripheral corneal opacity with anomalies in urinary mucopolysaccharides: a possible error of chondroitin-6-sulfate synthesis. Am. J. Med. Genet. 2, 385–395 (1978).

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