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

作者：Hagop Youssoufian, C Wong, Sophia Aronis, H Platokoukis, H H Kazazian, Stylianos E. Antonarakis · 发表于：PubMed · 年份：1988 · 被引用次数：26 · 研究领域：Hemophilia Treatment and Research、Cancer-related gene regulation、Platelet Disorders and Treatments

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.