The factor V G1691A mutation is a risk for porencephaly: A case–control study | Zendy

Debus Otfried M. | Zendy; Kosch Andrea | Zendy; Sträter Ronald | Zendy; Rossi Rainer | Zendy; NowakGöttl Ulrike | Zendy

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The factor V G1691A mutation is a risk for porencephaly: A case–control study

Author(s) -

Debus Otfried M.,

Kosch Andrea,

Sträter Ronald,

Rossi Rainer,

NowakGöttl Ulrike

Publication year - 2004

Publication title -

annals of neurology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 4.764

H-Index - 296

eISSN - 1531-8249

pISSN - 0364-5134

DOI - 10.1002/ana.20184

Subject(s) - porencephaly , methylenetetrahydrofolate reductase , factor v , antithrombin , medicine , risk factor , mutation , protein c , gastroenterology , genotype , genetics , biology , thrombosis , heparin , pathology , gene

This study was initiated to investigate prothrombotic risk factors in children with porencephaly. 76 porencephalic and 76 healthy infants were investigated for factor V (FV) G1691A mutation, factor II G20210A variant, methylenetetrahydrofolate reductase (MTHFR) C677T genotype, lipoprotein (a), protein C, protein S, and antithrombin. Only the FV mutation ( p = 0.005) and combinations of two or three different risk factors ( p = 0.003) were significantly associated with porencephaly. These data give evidence that the FV G1691A mutation and a combination of prothromboic factors play a major role in the development of childhood porencephaly. Ann Neurol 2004.

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