The clinical features of homozygous alpha 2(I) collagen deficient osteogenesis imperfecta.

The detailed clinical features and progress of a child with homozygous alpha 2(I) collagen deficiency are described. Clinically, the disease presents as severe progressive Sillence type III osteogenesis imperfecta. The main biochemical defect is the synthesis of an abnormal pro alpha 2(I) chain whic...

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Hlavní autoři: Nicholls, A C, Osse, G, Schloon, H G, Lenard, H G, Deak, S, Myers, J C, Prockop, D J, Weigel, W R, Fryer, P, Pope, F M
Médium: Artigo
Jazyk:Inglês
Vydáno: 1984
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1049293/
https://ncbi.nlm.nih.gov/pubmed/6492090
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