A new SLC12A3 founder mutation (p.Val647Met) in Gitelman's syndrome patients of Roma ancestry

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Una nueva mutación fundadora en SLC12A3 (p.Val647Met) en pacientes con síndrome de Gitelman de etnia gitana

Helena Gil-Peñaa,

Corresponding author

hgilpena@gmail.com

Corresponding author.

, 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

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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Article information

ISSN: 02116995
Original language: English

DOI:10.1016/j.nefro.2017.01.007

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