Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5680877 | Medicina Clínica | 2017 | 5 Pages |
Abstract
In Spain, the genetic heterogeneity of PKLR is still high but differs from that observed in the previous study carried out in 1998. Total PKLR gene sequencing is necessary for the characterization of all patients with PKD and for genetic counseling.
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Authors
Laura Montllor, MarÃa del Mar Mañú-Pereira, Esther Llaudet-Planas, Pilar Gómez RamÃrez, Julián Sevilla Navarro, Joan LluÃs Vives-Corrons,