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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...

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Détails bibliographiques
Publié dans:Nucleic Acids Res
Auteurs principaux: Levinson, B, Janco, R, Phillips, J, Gitschier, J
Format: Artigo
Langue:Inglês
Publié: Oxford University Press 1987
Accès en ligne:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC306532/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/3122181/
https://ncbi.nlm.nih.govhttps://doi.org/10.1093/nar/15.23.9797
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