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

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

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  • 1Department 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.

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