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Article

Severe and moderate hemophilia A: identification of 38 new genetic alterations.

Haematologica - 1 Jul 2008

Casaña Pilar, Cabrera Noelia, Cid Ana Rosa, Haya Saturnino, Beneyto Magdalena, Espinós Carmen, Cortina Vicente, Dasí Maria Angeles, Aznar Josè Antonio

Abstract excerpt

Hemophilia A is an X-linked recessive disorder caused by a lack or decrease of factor VIII activity. Its socio-economic impact is high given its high bleeding expression and treatment cost. Our aim was to establish the mutation of each patient to improve family management. A total of 116 unrelated families with severe and moderate hemophilia A were involved. Non-carriers of intron 22 and intron 1 rearrangements...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18403393
DOI: 10.3324/haematol.12344

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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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