Six additional cases of SEDC due to the same and recurrent R989C mutation in theCOL2A1gene-the clinical and radiological follow-up-Reference-Cited by-同舟云学术

Six additional cases of SEDC due to the same and recurrent R989C mutation in theCOL2A1gene-the clinical and radiological follow-up

Published:2015-03-03 Issue:4 Volume:167 Page:894-901
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

C. Silveira Karina¹,C. Bonadia Luciana¹,Superti-Furga Andrea²,R. Bertola Débora³,A.L. Jorge Alexander⁴,P. Cavalcanti Denise¹

Affiliation:

1. Skeletal Dysplasia Group; Department of Medical Genetic; University of Campinas (UNICAMP); Campinas São Paulo Brazil

2. Department of Pediatrics; Centre Hospitalier Universitaire Vaudois; University of Lausanne (CHUV); Lausanne Switzerland

3. Genetics Unit; Children's Institute; Clinical Hospital; University of São Paulo (USP); São Paulo São Paulo Brazil

4. Department of Endocrinology; University of São Paulo (USP); São Paulo São Paulo Brazil

Funder

CAPES

CNPq

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36954/fullpdf

Reference32 articles.

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2. Spondyloepiphyseal dysplasia congenita: Genetic linkage to type II collagen (COL2A1);Anderson;Am J Hum Genet,1990

3. Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene;Ballo;Am J Med Genet,1998

4. Hereditary osteoarthritis with mild spondyloepiphyseal dysplasia-are there “hot spots” on COL2A1?;Bleasel;J Rheumatol,1996

5. Characterization of an arginine 789 to cysteine substitution in alpha 1 [II] collagen chains of a patient with spondyloepiphyseal dysplasia;Chan;J Biol Chem,1993

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