Investigating Embryonic Expression Patterns and Evolution of AHI1 and CEP290 Genes, Implicated in Joubert Syndrome

Joubert syndrome and related diseases (JSRD) are developmental cerebello-oculo-renal syndromes with phenotypes including cerebellar hypoplasia, retinal dystrophy and nephronophthisis (a cystic kidney disease). We have utilised the MRC-Wellcome Trust Human Developmental Biology Resource (HDBR), to pe...

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Detalhes bibliográficos
Main Authors: Cheng, Yu-Zhu, Eley, Lorraine, Hynes, Ann-Marie, Overman, Lynne M., Simms, Roslyn J., Barker, Amy, Dawe, Helen R., Lindsay, Susan, Sayer, John A.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2012
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3454386/
https://ncbi.nlm.nih.gov/pubmed/23028714
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0044975
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