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...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2020-09-01
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| Series: | Nefrología (English Edition) |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2013251420301243 |