Pleiotropic effect of a novel mutation in GCNT2 causing congenital cataract and a rare adult i blood group phenotype

Mutations in GCNT2 have been associated with the rare adult i blood group phenotype with or without congenital cataract. We report a novel homozygous frameshift mutation c.1163_1166delATCA, p.(Asn388Argfs*20) as the cause of congenital cataract in two affected siblings. Blood group typing confirmed...

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Detalles Bibliográficos
Autores principales: Cheong, Sek-Shir, Hull, Sarah, Jones, Benjamin, Chana, Ravinder, Thornton, Nicole, Plagnol, Vincent, Moore, Anthony T, Hardcastle, Alison J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5311056/
https://www.ncbi.nlm.nih.gov/pubmed/28224043
http://dx.doi.org/10.1038/hgv.2017.4

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