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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...

詳細記述

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書誌詳細
主要な著者: Voorberg, J, de Laaf, R T, Koster, P M, van Mourik, J A
フォーマット: Artigo
言語:Inglês
出版事項: 1996
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1217707/
https://ncbi.nlm.nih.gov/pubmed/8836140
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