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Title

Severe factor XI deficiency in a Lebanese family: identification of a novel missense mutation (Trp501Cys) in the catalytic domain
Authors
De Moerloose, Philippe
Germanos-Haddad, Myrna
Boehlen, Françoise
Neerman Arbez, Marguerite
Published in Blood Coagulation and Fibrinolysis. 2004, vol. 15, no. 3, p. 269-272
Abstract In this study, a Lebanese woman with severe factor XI deficiency as well as several unaffected family members were analysed. The F11 gene was screened by polymerase chain reaction amplification of all 15 exons, including intron-exon junctions followed by single-strand conformational analysis. Variant single-strand conformational analysis profiles were obtained for exon 13; sequencing of these products allowed the identification of a novel missense mutation (Trp501Cys) situated in the catalytic domain, in homozygosity in the proband.
Keywords Adult — Catalytic Domain — DNA Mutational Analysis/methods — Exons — Factor XI Deficiency/ genetics — Family Health — Female — Homozygote — Humans — Lebanon — Mutation, Missense
Identifiers
PMID: 15060426
Full text
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Other version: http://ovidsp.ovid.com/ovidweb.cgi?T=JS&NEWS=N&PAGE=fulltext&AN=00001721-200404000-00013&LSLINK=80&D=ovft
Structures
Faculté de médecine / Section de médecine clinique / Département de médecine interne des spécialités
Citation
(ISO format) 		DE MOERLOOSE, Philippe et al. Severe factor XI deficiency in a Lebanese family: identification of a novel missense mutation (Trp501Cys) in the catalytic domain. In: Blood Coagulation and Fibrinolysis, 2004, vol. 15, n° 3, p. 269-272. https://archive-ouverte.unige.ch/unige:8705

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Deposited on : 2010-07-12

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