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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| Vydáno v: | Nucleic Acids Res |
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| Hlavní autoři: | , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Oxford University Press
1987
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| On-line přístup: | 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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