Short Original
A new SLC12A3 founder mutation (p.Val647Met) in Gitelman's syndrome patients of Roma ancestry
Una nueva mutación fundadora en SLC12A3 (p.Val647Met) en pacientes con síndrome de Gitelman de etnia gitana
Helena Gil-Peñaa,
, Eliecer Cotob,f, Fernando Santosa,f, Mar Espinoc, Jose Mª Cea Crespod, Giannis Chantzopoulose, Filadelfia Komianoue, Juan Gómezb, Belén Alonsob, Sara Iglesiasb, Cyrielle Treardf, Rosa Vargas-Poussouf, the Renaltube Group
Corresponding author
a Dept. Pediatría-RENALTUBE Consortium, Hospital Universitario Central Asturias, Oviedo, Spain
b Dept. Genética Molecular-Red de Investigación Renal, Hospital Universitario Central Asturias, Oviedo, Spain
c Hospital Doce de Octubre, Madrid, Spain
d Hospital Severo Ochoa, Leganés, Spain
e Dept. Pediatrics, Aghia Sophia Children's Hospital, Athens, Greece
f Hôpital Européen Georges Pompidou, France
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