A 19-base pair deletion in the pro-alpha 2(I) gene of type I procollagen that causes in-frame RNA splicing from exon 10 to exon 12 in a proband with atypical osteogenesis imperfecta and in his asymptomatic mother.-Reference-Cited by-同舟云学术

A 19-base pair deletion in the pro-alpha 2(I) gene of type I procollagen that causes in-frame RNA splicing from exon 10 to exon 12 in a proband with atypical osteogenesis imperfecta and in his asymptomatic mother.

Published:1988-08 Issue:23 Volume:263 Page:11407-11413
ISSN:0021-9258
Container-title:Journal of Biological Chemistry
language:en
Short-container-title:Journal of Biological Chemistry

Author:

Kuivaniemi H,Sabol C,Tromp G,Sippola-Thiele M,Prockop D J

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Biochemistry

Reference54 articles.

1. Collagen genes and inherited connective tissue disease

2. Genetic and Metabolic Disease in Pediatrics;Byers,1985

3. Cell and Molecular Biology of Hard Tissues CIBA Foundation Symposium No. 136;Prockop,1988

4. Reduced secretion of structurally abnormal type I procollagen in a form of osteogenesis imperfecta.

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5. Osteogenesis Imperfecta;Metabolic Bone Disease and Clinically Related Disorders;1998