Type I Procollagen C-Propeptide Defects: Study of Genotype-Phenotype Correlation and Predictive Role of Crystal Structure-Reference-Cited by-同舟云学术

Type I Procollagen C-Propeptide Defects: Study of Genotype-Phenotype Correlation and Predictive Role of Crystal Structure

Published:2014-09 Issue: Volume: Page:n/a-n/a
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Symoens Sofie¹,Hulmes David J.S.²,Bourhis Jean-Marie³,Coucke Paul J.¹,De Paepe Anne¹,Malfait Fransiska¹

Affiliation:

1. Center for Medical Genetics; Ghent University Hospital; 9000 Ghent Belgium

2. Unité Mixte de Recherche 5305, Institut de Biologie et Chimie des Protéines, Centre National de la Recherche Scientifique; Université Lyon 1; Lyon 769367 France

3. Unité Mixte Internationale 5365, Université Joseph Fourier, European Molecular Biology Laboratory; Centre National de la Recherche Scientifique; Grenoble 38042 France

Funder

Ghent University

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference67 articles.

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2. A frameshift mutation results in a truncated nonfunctional carboxyl-terminal pro alpha 1(I) propeptide of type I collagen in osteogenesis imperfecta;Bateman;J Biol Chem,1989

3. COL1A1 mutation analysis in Lithuanian patients with osteogenesis imperfecta;Benusiene;J Appl Genet,2003

4. Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships;Bodian;Hum Mol Genet,2009

5. The crucial role of trimerization domains in collagen folding;Boudko;Int J Biochem Cell Biol,2012

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