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Article

F8 mRNA studies in haemophilia A patients with different splice site mutations.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 Sept 2010

Castaman G, Giacomelli S H, Mancuso M E, Sanna S, Santagostino E, Rodeghiero F

Abstract excerpt

SUMMARY: Analysis of cDNA is a useful way of investigating splicing mutations and provides more information than using in silico analysis to understand disease pathogenesis better. For understanding the manner in which mutations result in haemophilia A (HA) of different degrees of severity in four index cases with HA and splice site mutations, we performed a detailed analysis of F8 lymphocyte mRNA using a nested...

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PMID: 20398075
DOI: 10.1111/j.1365-2516.2010.02250.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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