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A novel missense mutation in the factor VIII gene identified by analysis of amplified hemophilia DNA sequences.

To date the only point mutations demonstrated to cause hemophilia are C to T transitions in TaqI sites. These were detected by screening Southern blots with cloned factor VIII probes. During the development of improved methods for detecting and analyzing mutations in genomic DNA, a novel G to C tran...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Levinson, B, Janco, R, Phillips, J, Gitschier, J
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1987
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC306532/
https://ncbi.nlm.nih.gov/pubmed/3122181
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