Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome-Reference-Cited by-同舟云学术

Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome

Published:2011-02-18 Issue:3 Volume:26 Page:666-672
ISSN:0884-0431
Container-title:Journal of Bone and Mineral Research
language:en
Short-container-title:J Bone Miner Res

Author:

Kelley Brian P,Malfait Fransiska,Bonafe Luisa,Baldridge Dustin,Homan Erica,Symoens Sofie,Willaert Andy,Elcioglu Nursel,Van Maldergem Lionel,Verellen-Dumoulin Christine,Gillerot Yves,Napierala Dobrawa,Krakow Deborah,Beighton Peter,Superti-Furga Andrea,De Paepe Anne,Lee Brendan

Publisher

Wiley

Subject

Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

Reference24 articles.

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

2. Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta;Marini;Cell Tissue Res.,2010

3. PPIB mutations cause severe osteogenesis imperfecta;van Dijk;Am J Hum Genet.,2009

4. CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta;Baldridge;Hum Mutat.,2008

5. Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta;Christiansen;Am J Hum Genet.,2010

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