Lethal osteogenesis imperfecta congenita and a 300 base pair gene deletion for an alpha 1(I)-like collagen.

Broad boned lethal osteogenesis imperfecta is a severely crippling disease of unknown cause. By means of recombinant DNA technology a 300 base pair deletion in an alpha 1(I)-like collagen gene was detected in six patients and four complete parent-child groups including patients with this disease. On...

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Bibliografiske detaljer
Main Authors: Pope, F M, Cheah, K S, Nicholls, A C, Price, A B, Grosveld, F G
Format: Artigo
Sprog:Inglês
Udgivet: 1984
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1444740/
https://ncbi.nlm.nih.gov/pubmed/6419953
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