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Article

Identification of 217 unreported mutations in the F8 gene in a group of 1,410 unselected Italian patients with hemophilia A.

Journal of human genetics - 1 Jan 2008

Santacroce R, Acquila M, Belvini D, Castaldo G, Garagiola I, Giacomelli S H, Lombardi A M, Minuti B, Riccardi F, Salviato R, Tagliabue L, Grandone E, Margaglione M

Abstract excerpt

To provide a National database, 1,410 unrelated hemophilia A (HA) patients were investigated using screening methods denaturing high-performance liquid chromatography (DHPLC), conformational-sensitive gel electrophoresis (CSGE)] and/or direct sequencing. F8 gene mutations were identified in 877 (81%), 146 (82%), and 133 (89%) families with severe, moderate, or mild HA, respectively. Among the 382 different...

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PMID: 18217193
DOI: 10.1007/s10038-007-0238-y

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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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