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Nuclease S1 mapping of a homozygous mutation in the carboxyl-propeptide-coding region of the pro alpha 2(I) collagen gene in a patient with osteogenesis imperfecta.

The molecular defect in a patient with a moderately severe form of osteogenesis imperfecta was characterized by nuclease S1 mapping. Single-stranded 5' and 3' end-labeled DNA probes coding for 80% of the carboxyl-propeptide of the pro alpha 2(I) collagen gene were hybridized to mRNA isolat...

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Main Authors: Dickson, L A, Pihlajaniemi, T, Deak, S, Pope, F M, Nicholls, A, Prockop, D J, Myers, J C
Format: Artigo
Jezik:Inglês
Izdano: 1984
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC345623/
https://ncbi.nlm.nih.gov/pubmed/6087329
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