Search Results - "Chantzopoulos, Giannis"

A new SLC12A3 founder mutation (p.Val647Met) in Gitelman's syndrome patients of Roma ancestry by Gil-Peña, Helena, Coto, Eliecer, Santos, Fernando, Espino, Mar, Cea Crespo, Jose Mª, Chantzopoulos, Giannis, Komianou, Filadelfia, Gómez, Juan, Alonso, Belén, Iglesias, Sara, Treard, Cyrielle, Vargas-Poussou, Rosa

“…Gitelman's syndrome (GS) is an autosomal recessive disorder caused by mutations in the SLC12A3 gene. GS is characterized by hypokalaemic metabolic alkalosis,…”
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A new SLC12A3 founder mutation (p.Val647Met) in Gitelman's syndrome patients of Roma ancestry by Gil-Peña, Helena, Coto, Eliecer, Santos, Fernando, Espino, Mar, Cea Crespo, Jose Mª, Chantzopoulos, Giannis, Komianou, Filadelfia, Gómez, Juan, Alonso, Belén, Iglesias, Sara, Treard, Cyrielle, Vargas-Poussou, Rosa

“…Background: Gitelman's syndrome (GS) is an autosomal recessive disorder caused by mutations in the SLC12A3 gene. GS is characterized by hypokalaemic metabolic…”
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