Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease

BACKGROUND: Autosomal recessive polycystic kidney disease (ARPKD) is an early-onset form of polycystic kidney disease that often leads to devastating outcomes for patients. ARPKD is caused by mutations in the PKHD1 gene, an extensive gene that encodes for the ciliary protein fibrocystin/polyductin....

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Detalles Bibliográficos
Autores principales: Obeidova, Lena, Seeman, Tomas, Elisakova, Veronika, Reiterova, Jana, Puchmajerova, Alena, Stekrova, Jitka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4689053/
https://www.ncbi.nlm.nih.gov/pubmed/26695994
http://dx.doi.org/10.1186/s12881-015-0261-3

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