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

Mutations at the factor VIII gene locus causing Haemophilia A have now been identified in many patients from many ethnic groups. Earlier studies used biased methods which detected repetitive mutations at a few CG dinucleotides. More recently rapid gene scanning methods have uncovered an extreme dive...

Ausführliche Beschreibung

Gespeichert in:
Bibliografische Detailangaben
Veröffentlicht in:Nucleic Acids Res
Hauptverfasser: Tuddenham, E G, Cooper, D N, Gitschier, J, Higuchi, M, Hoyer, L W, Yoshioka, A, Peake, I R, Schwaab, R, Olek, K, Kazazian, H H
Format: Artigo
Sprache:Inglês
Veröffentlicht: Oxford University Press 1991
Online-Zugang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC328775/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1923751/
https://ncbi.nlm.nih.govhttps://doi.org/10.1093/nar/19.18.4821
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