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Nonsense-associated alternative splicing as a putative reno-protective mechanism in <i> Pkhd1 <sup>cyli</sup> /Pkhd1 <sup>cyli</sup> </i> mutant mice

2021-09-22

Abstract excerpt

Autosomal recessive polycystic kidney disease (ARPKD) is a hereditary hepato-renal fibrocystic disorder and a significant genetic cause of childhood morbidity and mortality. Mutations in the Polycystic Kidney and Hepatic Disease 1 ( PKHD1 ) gene cause all typical forms of ARPKD. Several mouse strains carrying diverse genetically engineered disruptions in the orthologous Pkhd1 gene have been generated. The curren...

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Literature Corpus work
9d9454c2-0fc2-56e7-b29a-09f8cdc81181
DOI
10.1101/2021.09.22.461297
Open publication

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Nonsense-associated alternative splicing as a putative reno-protective mechanism in <i> Pkhd1 <sup>cyli</sup> /Pkhd1 <sup>cyli</sup> </i> mutant miceDOI 10.1101/2021.09.22.461297
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