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Article

Deep intronic variations may cause mild hemophilia A.

Journal of thrombosis and haemostasis : JTH - 1 Aug 2011

Castaman G, Giacomelli S H, Mancuso M E, D'Andrea G, Santacroce R, Sanna S, Santagostino E, Mannucci P M, Goodeve A, Rodeghiero F

Abstract excerpt

BACKGROUND: In about 10% of patients with mild hemophilia A, no candidate gene mutations are apparent after complete gene sequencing. AIM OF THE STUDY: To analyze factor VIII gene (F8) mRNA for mutations in five families with mild hemophilia A with no apparent genomic mutation and a reduced response to desmopressin. RESULTS: In four cases, mRNA studies revealed the presence of an abnormal mRNA transcript in...

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

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Identifiers

PMID: 21689372
DOI: 10.1111/j.1538-7836.2011.04408.x

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