Moderately severe hemophilia A resulting from Glu-...[Am J Hum Genet. 1988]

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1: Am J Hum Genet. 1988 Jun;42(6):867-71. Links

Moderately severe hemophilia A resulting from Glu----Gly substitution in exon 7 of the factor VIII gene.

Youssoufian H, Wong C, Aronis S, Platokoukis H, Kazazian HH Jr, Antonarakis SE.

Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205.

To define the molecular basis of a TaqI site alteration in the factor VIII gene of a patient with moderately severe hemophilia A, we used a combination of genomic amplification followed by direct sequencing and oligonucleotide hybridization, to demonstrate an A-to-G substitution in exon 7 (codon 291) of this gene. This mutation generates a Gly in place of Glu at amino acid 272 of the mature factor VIII protein. The mutation arose de novo in a germ cell of the patient's mother.

PMID: 2835904 [PubMed - indexed for MEDLINE]

PMCID: PMC1715196

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Cited by 8 PubMed Central articles

Germ-line origins of mutation in families with hemophilia B: the sex ratio varies with the type of mutation.
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Antihemophilic Factor (Human) (Alphanate® , Hemofil® M Method M Monoclonal Purified, Humate-P® , ...)
Your doctor has ordered antihemophilic factor (human), an antihemophilic factor, to help your blood to clot. The drug will be either injected directly into your vein or added to an intravenous fluid that will drip throug...
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Cited by 8 PubMed Central articles

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