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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...

Täydet tiedot

Tallennettuna:
Julkaisussa:Proc Natl Acad Sci U S A
Päätekijät: Aly, A M, Higuchi, M, Kasper, C K, Kazazian, H H, Antonarakis, S E, Hoyer, L W
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: National Academy of Sciences 1992
Aiheet:
Research Article
Linkit: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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