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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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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Obeidova, Lena, Seeman, Tomas, Elisakova, Veronika, Reiterova, Jana, Puchmajerova, Alena, Stekrova, Jitka
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2015
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4689053/
https://ncbi.nlm.nih.gov/pubmed/26695994
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-015-0261-3
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