نتایج جستجو برای: arpkd
تعداد نتایج: 183 فیلتر نتایج به سال:
A targeted customized sequencing of genes implicated in autosomal recessive polycystic kidney disease (ARPKD) phenotype was performed to identify candidate variants using the Ion torrent PGM next-generation sequencing. The results identified four potential pathogenic variants in PKHD1 gene [c.4870C > T, p.(Arg1624Trp), c.5725C > T, p.(Arg1909Trp), c.1736C > T, p.(Thr579Met) and c.10628T > G, p....
Abstract Background Congenital hepatic fibrosis (CHF) is a rare disorder of the porto-biliary system occurring due to defective remodeling ductal architecture leading progressive portal tract. Though classically, CHF has been reported be associated with autosomal recessive polycystic kidney disease (ARPKD), there have only few reports associating dominant (ADPKD). Also, lack proper sequencing p...
POLYCYSTIC KIDNEY DISEASE comprises a number of genetically disparate disorders including autosomal dominant polycystic kidney disease (ADPKD), autosomal recessive polycystic kidney disease (ARPKD), and nephronophthisis (NPHP). These cystic disorders are characterized by the development and expansion of numerous renal cysts with ultimate loss of renal function. While ARPKD and NPHP are relative...
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