New mutation associated with autosomal dominant polycystic kidney disease with founder effect located in the Alpujarra region of Granada

New mutation associated with autosomal dominant polycystic kidney disease with founder effect located in the Alpujarra region of Granada

Objective: 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 (T) by adenine (A) that at the leve...

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Bibliographic Details
Main Authors: Carmen García-Rabaneda, Margarita Martínez-Atienza, Ana I. Morales-García, Antonio Poyatos-Andújar, Susana García-Linares, María Luz Bellido-Díaz, Irene Argüelles-Toledo, María García-Valverde, Juan A. Bravo- Soto, Rafael J. Esteban-de-la-Rosa
Format: Article
Language:English
Published: Elsevier 2020-09-01
Series:Nefrología (English Edition)
Subjects:
PQRAD
Mutación Alpujarra
PKD1
Efecto fundador
Online Access:http://www.sciencedirect.com/science/article/pii/S2013251420301243

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http://www.sciencedirect.com/science/article/pii/S2013251420301243

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