Phenotypic Comparison of an Osteogenesis Imperfecta Type IV Proband with ade Novoα2(I) Gly922 → Ser Substitution in Type I Collagen and an Unrelated Patient with an Identical Mutation-Reference-Cited by-同舟云学术

Phenotypic Comparison of an Osteogenesis Imperfecta Type IV Proband with ade Novoα2(I) Gly922 → Ser Substitution in Type I Collagen and an Unrelated Patient with an Identical Mutation

Published:1997-10 Issue:1 Volume:62 Page:26-35
ISSN:1077-3150
Container-title:Biochemical and Molecular Medicine
language:en
Short-container-title:Biochemical and Molecular Medicine

Author:

Forlino Antonella,D'amato Elena,Valli Maurizia,Camera Gianni,Hopkins Elizabeth,Marini Joan C.,Cetta Giuseppe,Coviello Domenico A.

Publisher

Elsevier BV

Subject

Biochemistry

Reference30 articles.

1. Osteogenesis Imperfecta;Byers,1993

2. Mutations in collagen genes: Causes of rare and some common diseases in humans;Kuivaniemi;FASEB J,1991

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4. The zipper-like folding of collagen triple helices and the effects of mutations that disrupt the zipper;Engel;Annu Rev Biophys Chem,1991

5. Osteogenesis Imperfecta: Translation of mutation to phenotype;Byers;J Med Genet,1991

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