Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations.

Although >90% of patients with osteogenesis imperfecta (OI) have been estimated to have mutations in the COL1A1 and COL1A2 genes for type I procollagen, mutations have been difficult to detect in all patients with the mildest forms of the disease (i.e., type I). In this study, we first searched f...

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Main Authors: Körkkö, J, Ala-Kokko, L, De Paepe, A, Nuytinck, L, Earley, J, Prockop, D J
Formato: Artigo
Idioma:Inglês
Publicado: 1998
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Research Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1376813/
https://ncbi.nlm.nih.gov/pubmed/9443882
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