Three novel mutations of CHD7 gene in two turkish patients with charge syndrome; A double point mutation and an insertion

The CHARGE (coloboma, heart defects, atresia, retardation, genital, ear) syndrome is a genetic disease characterized by ocular coloboma, choanal atresia or stenosis and semicircular canal abnormalities. Most of the patients clinically diagnosed with CHARGE syndrome have mutations in chromodomain hel...

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Detalles Bibliográficos
Autores principales: Bozkaya, O Giray, Ataman, E, Randa, C, Cura, D Onur, Gürsoy, S, Aksel, O, Ulgenalp, A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Macedonian Science of Sciences and Arts 2015
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4768827/
https://www.ncbi.nlm.nih.gov/pubmed/26929907
http://dx.doi.org/10.1515/bjmg-2015-0007

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