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Article

New mutation associated with autosomal dominant polycystic kidney disease with founder effect located in the alpujarra region of granada.

Nefrologia - 1 Jan 2000

García-Rabaneda Carmen, Martínez-Atienza Margarita, Morales-García Ana I, Poyatos-Andújar Antonio, García-Linares Susana, Bellido-Díaz María Luz, Argüelles-Toledo Irene, García-Valverde María, Bravo-Soto Juan A, Esteban-de-la-Rosa Rafael J

Abstract excerpt

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 level of the Polycystin 1 protein produces a change of leucine (Leu / L) by Glutamine (Gln / Q) in position 2431...

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PMID: 32505451
DOI: 10.1016/j.nefro.2020.03.003

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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