Molecular heterogeneity in osteogenesis imperfecta type I-Reference-Cited by-同舟云学术

Molecular heterogeneity in osteogenesis imperfecta type I

Published:1993-01-15 Issue:2 Volume:45 Page:223-227
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Willing Marcia C.,Pruchno Charles J.,Byers Peter H.

Publisher

Wiley

Subject

Genetics(clinical)

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.1320450214/fullpdf

Reference24 articles.

1. Type I osteogenesis imperfecta: a nonfunctional allele for pro alpha 1 (I) chains of type I procollagen.

2. Intron-mediated recombination may cause a deletion in an alpha 1 type I collagen chain in a lethal form of osteogenesis imperfecta.

3. Lethal perinatal osteogenesis imperfecta due to the substitution of arginine for glycine at residue 391 of the alpha 1(I) chain of type I collagen.

4. Abnormal alpha 2-chain in type I collagen from a patient with a form of osteogenesis imperfecta.

5. (1989) Disorders of collagen biosynthesis and structure. In (eds): “The Metabolic Basis of Inherited Diseases.” New York: McGraw-Hill, pp 2805-2842.

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