Detection of DZIP1L mutations by whole-exome sequencing in consanguineous families with polycystic kidney disease

BACKGROUND: Autosomal recessive polycystic kidney disease is a cystic kidney disease with early onset and clinically characterized by enlarged echogenic kidneys, hypertension, varying degrees of kidney dysfunction, and liver fibrosis. It is most frequently caused by sequence variants in the PKHD1 ge...

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Detalles Bibliográficos
Autores principales: Hertz, Jens Michael, Svenningsen, Per, Dimke, Henrik, Engelund, Morten Buch, Nørgaard, Hanne, Hansen, Anita, Marcussen, Niels, Thiesson, Helle Charlotte, Bergmann, Carsten, Larsen, Martin J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9489574/
https://www.ncbi.nlm.nih.gov/pubmed/35211789
http://dx.doi.org/10.1007/s00467-022-05441-4

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