Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation inPLOD2-Reference-Cited by-同舟云学术

Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation inPLOD2

Published:2004-11-02 Issue:2 Volume:131A Page:115-120
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Ha-Vinh Russia,Alanay Yasemin,Bank Ruud A.,Campos-Xavier Ana Belinda,Zankl Andreas,Superti-Furga Andrea,Bonafé Luisa

Funder

Swiss National Science Foundation

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference38 articles.

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3. A simplified measurement of degraded collagen in tissues: Application in healthy, fibrillated and osteoarthritic cartilage;Bank;Matrix Biol,1997b

4. Defective collagen crosslinking in bone, but not in ligament or cartilage, in Bruck syndrome: Indications for a bone-specific telopeptide lysyl hydroxylase on chromosome 17;Bank;Proc Natl Acad Sci USA,1999

5. Osteogenesis imperfecta with joint contractures: Bruck syndrome;Blacksin;Pediatr Radiol,1998

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