Partial correction of a severe molecular defect in hemophilia A, because of errors during expression of the factor VIII gene.

Although the molecular defect in patients in a Japanese family with mild to moderately severe hemophilia A was a deletion of a single nucleotide T within an A8TA2 sequence of exon 14 of the factor VIII gene, the severity of the clinical phenotype did not correspond to that expected of a frameshift m...

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Main Authors: Young, M, Inaba, H, Hoyer, L W, Higuchi, M, Kazazian, H H, Antonarakis, S E
Formato: Artigo
Idioma:Inglês
Publicado: 1997
Assuntos:
Research Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1712533/
https://ncbi.nlm.nih.gov/pubmed/9042915
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