Molecular basis of severe factor XI deficiency in seven families from the west of France. Seven novel mutations, including an ancient Q88X mutation.

Quélin, F; Trossaërt, M; Sigaud, M; Mazancourt, P D E; Fressinaud, E

Quélin, F; Trossaërt, M; Sigaud, M; Mazancourt, P D E; Fressinaud, E.

Affiliation

Quélin F; Laboratoire de Biochimie et Biologie Moléculaire, Hôpital Raymond Poincaré, Garches, France. florence.quelin@rpc.ap-hop-paris.fr

J Thromb Haemost ; 2(1): 71-6, 2004 Jan.

Article in En | MEDLINE | ID: mdl-14717969

Subject(s)

Codon, Nonsense; Factor XI Deficiency/genetics; Factor XI/genetics; Adolescent; Adult; Aged; Aged, 80 and over; Child; Codon, Terminator/genetics; DNA Mutational Analysis; Female; Founder Effect; France; Haplotypes; Heterozygote; Homozygote; Humans; Male; Middle Aged; Mutation, Missense; Pedigree

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Collection: 01-internacional Database: MEDLINE Main subject: Factor XI / Codon, Nonsense / Factor XI Deficiency Type of study: Prognostic_studies Limits: Adolescent / Adult / Aged / Aged80 / Child / Female / Humans / Male / Middle aged Country/Region as subject: Europa Language: En Journal: J Thromb Haemost Journal subject: HEMATOLOGIA Year: 2004 Document type: Article Affiliation country: France

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