The MTR A2756G polymorphism is associated with an increase of plasma homocysteine concentration in Brazilian individuals with Down syndrome

Individuals with Down syndrome (DS) present decreased homocysteine (Hcy) concentration, reflecting a functional folate deficiency secondary to overexpression of the cystathionine ß-synthase gene. Since plasma Hcy may be influenced by genetic polymorphisms, we evaluated the influence of C677T and A12...

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Hlavní autoři:	J.M Biselli, E.M Goloni-Bertollo, R Haddad, M.N Eberlin, E.C Pavarino-Bertelli
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Associação Brasileira de Divulgação Científica 2008-01-01
Edice:	Brazilian Journal of Medical and Biological Research
Témata:	Down syndrome Trisomy 21 Polymorphism Homocysteine Mass spectrometry (LC-MS/MS)
On-line přístup:	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2008000100006
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