TY  - JOUR
AU  - García Rabaneda, Carmen
AU  - Perea, Francisco
AU  - Bellido Díaz, María Luz
AU  - Morales García, Ana I
AU  - Martínez Atienza, Margarita
AU  - Sousa Silva, Lisbeth
AU  - González, Miguel Ángel García
AU  - Ruiz-Cabello, Francisco
AU  - Esteban de la Rosa, Rafael J
PY  - 2020
DO  - 10.1093/ckj/sfaa261
SN  - 2048-8505
UR  - https://hdl.handle.net/10668/26228
T2  - Clinical kidney journal
AB  - Our group identified two pathogenic variants on the PKD1 gene, c.10527_10528delGA and c.7292T>A, from unrelated families. They came from two small counties in Granada, with 61 and 26 autosomal dominant polycystic kidney disease (ADPKD) individuals...
LA  - en
KW  - ADPKD
KW  - Southern Spain
KW  - common ancestor
KW  - disease-associated haplotype
KW  - founding mutation
KW  - hotspots
TI  - Founding mutations explains hotspots of polycystic kidney disease in Southern Spain.
TY  - research article
VL  - 14
ER  -