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Intracellular retention of a factor VIII protein with an Arg2307-->Gln mutation as a cause of haemophilia A.
Substitution of Arg2307 by Gln in factor VIII has been found to be associated with mild to moderate haemophilia A [Gitschier, Wood, Shuman and Lawn (1986) Science 232, 1415-1416]. We have introduced this particular point mutation into a B-domain-deleted factor VIII cDNA and expressed the modified cD...
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| Main Authors: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
1996
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1217707/ https://ncbi.nlm.nih.gov/pubmed/8836140 |
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