Hemophilia A due to mutations that create new N-glycosylation sites.

In studying the molecular defects responsible for cross-reacting material-positive hemophilia A, we have identified two patients in whom the nonfunctional factor VIII-like protein has abnormal, slower-moving heavy or light chains on SDS/PAGE. Both patients have severe hemophilia A (less than 1% of n...

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Publicado en:	Proc Natl Acad Sci U S A
Autores principales:	Aly, A M, Higuchi, M, Kasper, C K, Kazazian, H H, Antonarakis, S E, Hoyer, L W
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	National Academy of Sciences 1992
Materias:	Research Article
Acceso en línea:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC49202/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1594597/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.89.11.4933
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