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Factor IXPortland: a nonsense mutation (CGA to TGA) resulting in hemophilia B.

Male siblings with severe hemophilia b were studied for the molecular defect responsible for their disorder. To define the precise DNA alteration, a 362-bp fragment in the first part of exon VIII of the factor IX gene was amplified and sequenced. A single-base-pair substitution of C----T at the nucl...

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Hlavní autoři: Chen, S H, Scott, C R, Schoof, J, Lovrien, E W, Kurachi, K
Médium: Artigo
Jazyk:Inglês
Vydáno: 1989
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1715568/
https://ncbi.nlm.nih.gov/pubmed/2929599
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