Article
THE RELATIONSHIP BETWEEN CONGENITAL HEART DEFECTS AND e-NOS GENE IN DOWN SYNDROME.
Genetic counseling (Geneva, Switzerland) - 1 Jan 2000
Okur M, Eroz R, Bektas M S, Gulsen S, Bahadir A, Turker Y, Gunes C
Abstract excerpt
The aim of the study was to compare the effects of three eNOS gene polymorphisms associated with congenital heart defects, between Down syndrome patients with and without cardiac anomalies. Transthoracic echocardiographic examinations and eNOS single-nucleotide polymorphisms were investigated on seventy-five patients, prospectively. The frequencies of mutant alleles in the eNOS promoter (the -786T/C polymorphism)...
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