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Article

Analysis of 18 novel mutations in the factor VIII gene.

British journal of haematology - 1 Sept 2003

Bicocchi Maria P, Pasino Mirella, Lanza Tiziana, Bottini Federico, Boeri Elio, Mori Pier G, Molinari Angelo C, Rosano Camillo, Acquila Maura

Abstract excerpt

We describe 18 novel mutations, unreported in the Haemophilia A mutation Databases, that have been identified in a cohort of unrelated, Italian patients affected with haemophilia A (HA). Screening of the factor VIII gene (FVIII) was performed using denaturing high-performance liquid chromatography (DHPLC) and direct sequencing. Eight mutations were characterized as non-missense alterations, and the remaining 10...

Topics

Chromatography, High Pressure Liquid
DNA Mutational Analysis
Factor VIII
Female
Gene Deletion
Hemophilia A
Heterozygote
Humans
Male
Mutation
Mutation, Missense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phenotype

Point Mutation

Source

Identifiers

PMID: 12930394
DOI: 10.1046/j.1365-2141.2003.04494.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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