Cargando…

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...

Descripción completa

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:
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