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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2018
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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 |