Nueva mutación asociada a poliquistosis renal autosómica dominante con efecto fundador localizada en la Alpujarra de Granada

Nueva mutación asociada a poliquistosis renal autosómica dominante con efecto fundador localizada en la Alpujarra de Granada

Resumen: Objetivo: Demostrar que la variante no descrita en el gen PKD1 c.7292T>A, identificada en cuatro familias de la comarca de la Alpujarra de Granada, es la causante de la poliquistosis renal autosómica dominante (PQRAD). Esta variante consiste en una sustitución transversión de timina (T)...

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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:	Spanish
Published:	Elsevier 2020-09-01
Series:	Nefrología
Subjects:	ADPKD Alpujarra mutation PKD1 Founder effect
Online Access:	http://www.sciencedirect.com/science/article/pii/S0211699520300473

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