Detection and validation of novel mutations in MERTK in a simplex case of retinal degeneration using WGS and hiPSC-RPEs model

Inherited Retinal degenerations (IRD) are a group of genetically heterogeneous conditions with broad clinical phenotypic heterogeneity. A nuclear family of European ancestry with one individual affected by progressive retinal degeneration was analyzed. Whole genome sequencing of the proband and her...

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Biswas, Pooja, Borooah, Shyamanga, Matsui, Hiroko, Voronchikhina, Marina, Zhou, Jason, Zawaydeh, Qais, Raghavendra, Pongali B, Ferreyra, Henry, Riazuddin, S Amer, Wahlin, Karl, Frazer, Kelly A, Ayyagari, Radha
Formato: Artigo
Idioma:Inglês
Publicado em: 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7878419/
https://ncbi.nlm.nih.gov/pubmed/33252167
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.24146
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