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Genotypic and phenotypic characterization of the Sdccag8(Tn(sb-Tyr)2161B.CA1C2Ove) mouse model

Nephronophthisis-related ciliopathies (NPHP-RC) are a group of disorders that present with end-stage renal failure in childhood/adolescence, kidney cysts, retinal degeneration, and cerebellar hypoplasia. One disorder that shares clinical features with NPHP-RC is Bardet-Biedl Syndrome (BBS). Serologi...

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Detalles Bibliográficos
Autores principales:	Weihbrecht, Katie, Goar, Wesley A., Carter, Calvin S., Sheffield, Val C., Seo, Seongjin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2018
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5812623/ https://www.ncbi.nlm.nih.gov/pubmed/29444170 http://dx.doi.org/10.1371/journal.pone.0192755

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