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Detection of a high frequency RsaI polymorphism in the human pro alpha 2(I) collagen gene which is linked to an autosomal dominant form of osteogenesis imperfecta.

Screening of the pro alpha 2(I) collagen genes of Southern African populations for restriction fragment length polymorphisms (RFLPs) has revealed a locus polymorphic for the restriction enzyme RsaI. The frequency of the RFLP was 0.38 in Afrikaners, but much lower in indigenous Southern African popul...

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Bibliographische Detailangaben
Hauptverfasser: Grobler-Rabie, A F, Wallis, G, Brebner, D K, Beighton, P, Bester, A J, Mathew, C G
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1985
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC554412/
https://ncbi.nlm.nih.gov/pubmed/2992938
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