Historical and geographical distribution of the founder mutation c.610G>A; p.Ala204Thr in the CLCNKB gene linked to Bartter syndrome type III in Spain-Reference-Cited by-同舟云学术

Historical and geographical distribution of the founder mutation c.610G>A; p.Ala204Thr in the CLCNKB gene linked to Bartter syndrome type III in Spain

Published:2021-04-28 Issue:8 Volume:14 Page:1990-1993
ISSN:2048-8513
Container-title:Clinical Kidney Journal
language:en
Short-container-title:

Author:

Peces Ramón¹^ORCID,Mena Rocío²,Peces Carlos³,Barruz Pilar²,Trujillo Hernando⁴,Carreño Agustín⁵,Espinosa Laura⁶,Selgas Rafael¹,Lapunzina Pablo²⁷,Nevado Julián²⁷

Affiliation:

1. Servicio de Nefrología-Adultos, Hospital Universitario La Paz. IdiPAZ. Universidad Autónoma, Madrid, Spain

2. Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz. IdiPAZ. Universidad Autónoma, Madrid, Spain

3. Area de Tecnología de la Información, SESCAM, Toledo, Spain

4. Servicio de Nefrología-Adultos, Hospital Universitario 12 de Octubre, Madrid, Spain

5. Servicio de Nefrología, Hospital General Universitario de Ciudad Real, Ciudad Real, Spain

6. Servicio de Nefrología-Infantil, Hospital Universitario La Paz. IdiPAZ. Universidad Autónoma, Madrid, Spain

7. CIBERER, ITHACA (European Reference Network), Madrid, Spain

Funder

Research Activity Intensification Programme

Publisher

Oxford University Press (OUP)

Subject

Transplantation,Nephrology

Link

http://academic.oup.com/ckj/advance-article-pdf/doi/10.1093/ckj/sfab083/38711899/sfab083.pdf

Reference10 articles.

1. A founder mutation in the CLCNKB gene causes Bartter syndrome type III in Spain;Rodríguez Soriano;Pediatr Nephrol,2005

2. Genetics of type III Bartter syndrome in Spain, proposed diagnostic algorithm;García Castaño;PLoS One,2013

3. A Spanish founder mutation in the chloride channel gene, CLCNKB, as a cause of atypical Bartter syndrome in adult age;Gorgojo;Horm Res,2006

4. Poor phenotype-genotype association in a large series of patients with type III Bartter syndrome;García Castaño;PLoS One,2017

5. Patterns of genetic differentiation and the footprints of historical migrations in the Iberian Peninsula;Bycroft;Nat Commun,2019