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

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...

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Detalhes bibliográficos
Main Authors: Youssoufian, H, Wong, C, Aronis, S, Platokoukis, H, Kazazian, H H, Antonarakis, S E
Formato: Artigo
Idioma:Inglês
Publicado em: 1988
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1715196/
https://ncbi.nlm.nih.gov/pubmed/2835904
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