Biochemical Heterogeneity of Type I Collagen Mutations in Osteogenesis Imperfecta-Reference-Cited by-同舟云学术

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Biochemical Heterogeneity of Type I Collagen Mutations in Osteogenesis Imperfecta

Published:1988-12 Issue:1 Third Interna Volume:543 Page:95-105
ISSN:0077-8923
Container-title:Annals of the New York Academy of Sciences
language:en
Short-container-title:Ann NY Acad Sci

Author:

BATEMAN JOHN F.,CHAN DANNY,LAMANDE SHIREEN,MASCARA TOM,COLE WILLIAM G.

Publisher

Wiley

Subject

History and Philosophy of Science,General Biochemistry, Genetics and Molecular Biology,General Neuroscience

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1749-6632.1988.tb55321.x/fullpdf

Reference29 articles.

1. Collagen genes and inherited connective tissue disease

2. Genetic heterogeneity in osteogenesis imperfecta.

3. Osteogenesis imperfecta type II delineation of the phenotype with reference to genetic heterogeneity

Cited by 15 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Interaction of Collagen α1(X) Containing Engineered NC1 Mutations with Normal α1(X) in Vitro;Journal of Biological Chemistry;1999-05

2. The Nicholas Andry Award-1996 The Molecular Pathology of Osteogenesis Imperfecta;Clinical Orthopaedics and Related Research;1997-10

3. Gastrointestinal problems in patients who have type-III osteogenesis imperfecta.;The Journal of Bone & Joint Surgery;1995-09

4. Endoplasmic Reticulum-mediated Quality Control of Type I Collagen Production by Cells from Osteogenesis Imperfecta Patients with Mutations in the proα1(I) Chain Carboxyl-terminal Propeptide which Impair Subunit Assembly;Journal of Biological Chemistry;1995-04

5. A 5′ splice site mutation affecting the pre-mRNA splicing of two upstream exons in the collagen COL1A1 gene. Exon 8 skipping and altered definition of exon 7 generates truncated proα1(I) chains with a non-collagenous insertion destabilizing the triple helix;Biochemical Journal;1994-09-15

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