Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1-Reference-Cited by-同舟云学术

Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1

Published:2004-06-29 Issue:2 Volume:129A Page:144-148
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Zankl Andreas,Zabel Bernhard,Hilbert Katja,Wildhardt Gabi,Cuenot Segoleine,Xavier Belinda,Ha-Vinh Russia,Bonafé Luisa,Spranger Jürgen,Superti-Furga Andrea

Funder

Swiss Federal Office for Science and Education

Swiss National Foundation

European Skeletal Dysplasia Network (ESDN)

German BMBF (to B.Z.)

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference18 articles.

1. Stickler syndrome. A mutation in the nonhelical 3′ end of type II procollagen gene;Ahmad;Arch Ophthalmol,1995

2. Role of the pro-alpha2(I) COOH-terminal region in assembly of type I collagen: Disruption of two intramolecular disulfide bonds in pro-alpha2(I) blocks assembly of type I collagen;Doyle;J Cell Biochem,1998

3. Protein consequences of the Col2a1 C-propeptide mutation in the chondrodysplastic Dmm mouse;Fernandes;Matrix Biol,2003

4. Molecular diagnosis of Stickler syndrome: A COL2A1 stop codon mutation screening strategy that is not compromised by mutant mRNA instability;Freddi;Am J Med Genet,2000

5. An unusual familial spondyloepiphyseal dysplasia: “Spondyloperipheral dysplasia”;Kelly;Birth Defects Orig Artic Ser,1977

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