Impact of CPS1 Gene rs7422339 Polymorphism in Argentine Patients With Hyperhomocysteinemia

Autor: Silvera-Ruiz,Silene M., Grosso,Carola L., Kremer,Raquel Dodelson De, Laróvere,Laura E.

Publikováno v: Journal of Inborn Errors of Metabolism and Screening, Volume: 3, Article number: e140017, Published: 19 JUN 2019
Journal of Inborn Errors of Metabolism and Screening v.3 2015
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT

Carbamoyl phosphate synthetase 1 (CPS1) is a key gene in the first step of urea cycle and has been correlated with nitric oxide level and vascular smooth muscle activity. A functional single-nucleotide polymorphism C/A at position 4217 in CPS1 (Natio

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942015000100354&lng=en&tlng=en

Sequence and Copy Number Analyses of HEXB Gene in Patients Affected by Sandhoff Disease: Functional Characterization of 9 Novel Sequence Variants.

Autor: Zampieri, Stefania, Cattarossi, Silvia, Ramirez, Ana Maria Oller, Rosano, Camillo, Lourenco, Charles Marques, Passon, Nadia, Moroni, Isabella, Uziel, Graziella, Pettinari, Antonella, Stanzial, Franco, Kremer, Raquel Dodelson de, Azar, Nydia Beatriz, Hazan, Filiz, Filocamo, Mirella, Bembi, Bruno, Dardis, Andrea

Publikováno v: PLoS ONE; Jul2012, Vol. 7 Issue 7, p1-10, 10p

Impact of CPS1Gene rs7422339 Polymorphism in Argentine Patients With Hyperhomocysteinemia

Autor: Silvera-Ruiz, Silene M., Grosso, Carola L., Kremer, Raquel Dodelson De, Laróvere, Laura E.

Publikováno v: Journal of Inborn Errors of Metabolism and Screening; January 2015, Vol. 3 Issue: 1