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Identification of a missense mutation in the factor VIII gene of a mild hemophiliac.
DNA probes derived from the cloned factor VIII gene can be used to detect mutations in the factor VIII gene of hemophiliacs. DNA hybridization analysis led to the identification of two contrasting point mutations in the same codon. In a severe hemophiliac with no detectable factor VIII activity, the normal arginine codon (number 2307) is converted to a stop codon, while in a mild hemophiliac with 10 percent of normal activity, this same codon is converted to glutamine.
PMID: 3012775 [PubMed - indexed for MEDLINE]
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Cited by 21 PubMed Central articles
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Intracellular retention of a factor VIII protein with an Arg2307-->Gln mutation as a cause of haemophilia A.
Voorberg J, de Laaf RT, Koster PM, van Mourik JA.
Biochem J. 1996 Sep 15; 318 ( Pt 3):931-7.
[Biochem J. 1996]
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Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.
Tuddenham EG, Schwaab R, Seehafer J, Millar DS, Gitschier J, Higuchi M, Bidichandani S, Connor JM, Hoyer LW, Yoshioka A.
Nucleic Acids Res. 1994 Nov 11; 22(22):4851-68.
[Nucleic Acids Res. 1994]
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Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.
Tuddenham EG, Schwaab R, Seehafer J, Millar DS, Gitschier J, Higuchi M, Bidichandani S, Connor JM, Hoyer LW, Yoshioka A.
Nucleic Acids Res. 1994 Sep; 22(17):3511-33.
[Nucleic Acids Res. 1994]
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