A Missense Mutation in the SERPINH1 Gene in Dachshunds with Osteogenesis Imperfecta-Reference-Cited by-同舟云学术

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A Missense Mutation in the SERPINH1 Gene in Dachshunds with Osteogenesis Imperfecta

Published:2009-07-24 Issue:7 Volume:5 Page:e1000579
ISSN:1553-7404
Container-title:PLoS Genetics
language:en
Short-container-title:PLoS Genet

Author:

Drögemüller Cord,Becker Doreen,Brunner Adrian,Haase Bianca,Kircher Patrick,Seeliger Frank,Fehr Michael,Baumann Ulrich,Lindblad-Toh Kerstin,Leeb Tosso

Publisher

Public Library of Science (PLoS)

Subject

Cancer Research,Genetics(clinical),Genetics,Molecular Biology,Ecology, Evolution, Behavior and Systematics

Reference27 articles.

1. Osteogenesis imperfecta.;F Rau;Lancet,2004

2. Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.;JC Marini;Hum Mutat,2007

3. Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta.;WA Cabral;Nat Genet,2007

4. CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta.;R Morello;Cell,2006

5. Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta.;AM Barnes;N Engl J Med,2006

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