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Article

Spectrum of molecular defects and mutation detection rate in patients with mild and moderate hemophilia A.

Human mutation - 1 Jan 2007

Bogdanova Nadja, Markoff Arseni, Eisert Roswith, Wermes Cornelia, Pollmann Hartmut, Todorova Albena, Chlystun Marcin, Nowak-Göttl Ulrike, Horst Jürgen

Abstract excerpt

The amount of residual F8 (FVIII:C) determines the clinical severity of hemophilia A. Recently, we showed that the mutation detection rate in severely affected male patients (FVIII:C<1% of normal) is virtually 100% when testing for the common intron 22-/intron 1- inversions and big deletions, followed by genomic sequencing of the F8 gene. Here we report on the spectrum of mutations and their distribution...

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Identifiers

PMID: 16972227
DOI: 10.1002/humu.20403

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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