Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible.

Most forms of osteogenesis imperfecta are caused by dominant mutations in either of the two genes, COL1A1 and COL1A2, that encode the pro alpha 1(I) and pro alpha 2(I) chains of type I collagen, respectively. However, a severe, autosomal recessive form of OI type III with a comparatively high freque...

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Main Authors: Wallis, G A, Sykes, B, Byers, P H, Mathew, C G, Viljoen, D, Beighton, P
Formáid: Artigo
Teanga:Inglês
Foilsithe: 1993
Ábhair:
Research Article
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016423/
https://ncbi.nlm.nih.gov/pubmed/8100856
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