Mutation spectrum of the FZD-4, TSPAN12 AND ZNF408 genes in Indian FEVR patients

BACKGROUND: Mutations in candidate genes that encode for a ligand (NDP) and receptor complex (FZD4, LRP5 and TSPAN12) in the Norrin β-catenin signaling pathway are involved in the pathogenesis of familial exudative vitreoretinopathy (FEVR, MIM # 133780). Recently, a transcription factor (ZNF408) has...

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Detalles Bibliográficos
Autores principales: Musada, Ganeswara Rao, Syed, Hameed, Jalali, Subhadra, Chakrabarti, Subhabrata, Kaur, Inderjeet
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4912735/
https://www.ncbi.nlm.nih.gov/pubmed/27316669
http://dx.doi.org/10.1186/s12886-016-0236-y

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