An unclassified variant of CHD7 activates a cryptic splice site in a patient with CHARGE syndrome

CHARGE syndrome is a rare autosomal dominant disease that is typically caused by heterozygous CHD7 mutations. A de novo variant in a CHD7 splicing acceptor site (NM_017780.3:c.7165–4A>G) was identified in a Japanese boy with CHARGE syndrome. This variant has been considered to be an “unclassified...

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Detalles Bibliográficos
Autores principales: Katoh-Fukui, Yuko, Yatsuga, Shuichi, Shima, Hirohito, Hattori, Atsushi, Nakamura, Akie, Okamura, Kohji, Yanagi, Kumiko, Iso, Manami, Kaname, Tadashi, Matsubara, Yoichi, Fukami, Maki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2018
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5842149/
https://www.ncbi.nlm.nih.gov/pubmed/29531775
http://dx.doi.org/10.1038/hgv.2018.6

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