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By P O Pediatrics, Nephrology
Lena Obeidova, Tomas Seeman, Veronika Elisakova, Jana Reiterova, Alena Puchmajerova, Jitka Stekrova
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. Next-generation sequencing is presently the best option for molecular diagnosis of ARPKD. Our aim was to set up the first study of ARPKD patients from the Czech Republic, to determine the composition of their mutations and genotype-phenotype correlations, along with establishment of next-generation sequencing of the PKHD1 gene that could be used for the diagnosis of ARPKD patients...
2015: BMC Medical Genetics
Fouad T Chebib, Vicente E Torres
No abstract text is available yet for this article.
May 2016: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
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