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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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Dades bibliogràfiques
Publicat a:BMC Ophthalmol
Autors principals: Musada, Ganeswara Rao, Syed, Hameed, Jalali, Subhadra, Chakrabarti, Subhabrata, Kaur, Inderjeet
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2016
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4912735/
https://ncbi.nlm.nih.gov/pubmed/27316669
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12886-016-0236-y
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