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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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Detalles Bibliográficos
Autores principales:	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:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2012
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3454386/ https://www.ncbi.nlm.nih.gov/pubmed/23028714 http://dx.doi.org/10.1371/journal.pone.0044975

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