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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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Autors principals: Aly, A M, Higuchi, M, Kasper, C K, Kazazian, H H, Antonarakis, S E, Hoyer, L W
Format: Artigo
Idioma:Inglês
Publicat: 1992
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC49202/
https://ncbi.nlm.nih.gov/pubmed/1594597
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