COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta-Reference-Cited by-同舟云学术

COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta

Published:2011-04-07 Issue:6 Volume:32 Page:598-609
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Lindahl Katarina,Barnes Aileen M.,Fratzl-Zelman Nadja,Whyte Michael P.,Hefferan Theresa E.,Makareeva Elena,Brusel Marina,Yaszemski Michael J.,Rubin Carl-Johan,Kindmark Andreas,Roschger Paul,Klaushofer Klaus,McAlister William H.,Mumm Steven,Leikin Sergey,Kessler Efrat,Boskey Adele L.,Ljunggren Östen,Marini Joan C.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.21475/fullpdf

Reference40 articles.

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3. Mutations near amino end of alpha1(I) collagen cause combined osteogenesis imperfecta/Ehlers-Danlos syndrome by interference with N-propeptide processing;Cabral;J Biol Chem,2005

4. Mutations in the carboxyl-terminal propeptide of the pro alpha 1(I) chain of type I collagen result in defective chain association and produce lethal osteogenesis imperfecta;Chessler;J Biol Chem,1993

5. A novel disorder of type I collagen characterised by high bone mass, a mineralization defect and tendon calcification;Cundy;Calcif Tissue Int,2008

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