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Exclusion of the COL2A1 gene as the mutation site in diastrophic dysplasia.

The involvement of the cartilage specific type II collagen gene (COL2A1) was studied in nine patients with diastrophic dysplasia in the Finnish population, where the prevalence of this chondrodystrophy clearly exceeds that reported for other populations. COL2A1 was chosen as the candidate gene based...

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Detaylı Bibliyografya
Asıl Yazarlar: Elima, K, Kaitila, I, Mikonoja, L, Elonsalo, U, Peltonen, L, Vuorio, E
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 1989
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1015598/
https://ncbi.nlm.nih.gov/pubmed/2732992
Etiketler: Etiketle
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