Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene.

Hemophilia A is an X chromosome-linked disorder resulting from deficiency of factor VIII, an important protein in blood coagulation. A large number of disease-producing mutations have been reported in the factor VIII gene. However, a comprehensive analysis of the mutations has been difficult because...

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Detalhes bibliográficos
Main Authors: Higuchi, M, Kazazian, H H, Kasch, L, Warren, T C, McGinniss, M J, Phillips, J A, Kasper, C, Janco, R, Antonarakis, S E
Formato: Artigo
Idioma:Inglês
Publicado em: 1991
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC52304/
https://ncbi.nlm.nih.gov/pubmed/1908096
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