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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...

詳細記述

保存先:
書誌詳細
出版年:Nucleic Acids Res
主要な著者: Tuddenham, E G, Schwaab, R, Seehafer, J, Millar, D S, Gitschier, J, Higuchi, M, Bidichandani, S, Connor, J M, Hoyer, L W, Yoshioka, A
フォーマット: Artigo
言語:Inglês
出版事項: Oxford University Press 1994
オンライン・アクセス:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC308313/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7937051/
https://ncbi.nlm.nih.govhttps://doi.org/10.1093/nar/22.17.3511
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