TY  - JOUR
AU  - García-Rabaneda, Carmen
AU  - Martínez-Atienza, Margarita
AU  - Morales-García, Ana I
AU  - Poyatos-Andújar, Antonio
AU  - García-Linares, Susana
AU  - Bellido-Díaz, María Luz
AU  - Argüelles-Toledo, Irene
AU  - García-Valverde, María
AU  - Bravo-Soto, Juan A
AU  - Esteban-de-la-Rosa, Rafael J
PY  - 2020
DO  - 10.1016/j.nefro.2020.03.003
UR  - http://hdl.handle.net/10668/15692
T2  - Nefrologia
AB  - To demonstrate that the variant not described in PKD1 gene c.7292T> A, identified in four families from the Alpujarra in Granada, is the cause of autosomal dominant polycystic kidney disease (ADPKD). This variant consists of a transversion of thymine...
LA  - en
KW  - ADPKD
KW  - Alpujarra mutation
KW  - Efecto fundador
KW  - Founder effect
KW  - Mutación Alpujarra
KW  - PKD1
KW  - PQRAD
KW  - Adolescent
KW  - Adult
KW  - Child
KW  - Child, Preschool
KW  - Female
KW  - Humans
KW  - Infant
KW  - Male
KW  - Middle Aged
KW  - Mutation
KW  - Polycystic Kidney, Autosomal Dominant
KW  - Spain
KW  - TRPP Cation Channels
KW  - Young Adult
TI  - New mutation associated with autosomal dominant polycystic kidney disease with founder effect located in the alpujarra region of granada.
T2  - Nueva mutación asociada a poliquistosis renal autosómica dominante con efecto fundador localizada en la Alpujarra de Granada.
TY  - research article
VL  - 40
ER  -