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Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.

A large number of different mutations in the factor VIII (F8) gene have been identified as a cause of haemophilia A. This compilation lists known single base-pair substitutions, deletions and insertions in the F8 gene and reviews the status of the inversional events which account for a substantial p...

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Autors principals: Tuddenham, E G, Schwaab, R, Seehafer, J, Millar, D S, Gitschier, J, Higuchi, M, Bidichandani, S, Connor, J M, Hoyer, L W, Yoshioka, A
Format: Artigo
Idioma:Inglês
Publicat: 1994
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC308313/
https://ncbi.nlm.nih.gov/pubmed/7937051
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