High‐throughput custom capture sequencing identifies novel mutations in coloboma‐associated genes: Mutation in DNA‐binding domain of retinoic acid receptor beta affects nuclear localization causing ocular coloboma

Uveal coloboma is a potentially blinding congenital ocular malformation caused by the failure of optic fissure closure during the fifth week of human gestation. We performed custom capture high‐throughput screening of 38 known coloboma‐associated genes in 66 families. Suspected causative novel varia...

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Detalles Bibliográficos
Autores principales: Kalaskar, Vijay K., Alur, Ramakrishna P., Li, LeeAnn K., Thomas, James W., Sergeev, Yuri V., Blain, Delphine, Hufnagel, Robert B., Cogliati, Tiziana, Brooks, Brian P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7027867/
https://www.ncbi.nlm.nih.gov/pubmed/31816153
http://dx.doi.org/10.1002/humu.23954

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