Structural variations in a non-coding region at 1q32.1 are responsible for the NYS7 locus in two large families

Congenital motor nystagmus (CMN) is characterized by early-onset bilateral ocular oscillations without other ocular deficits. To date, mutations in only one gene have been identified to be responsible for CMN, i.e., FRMD7 for X-linked CMN. Four loci for autosomal dominant CMN, including NYS7 (OMIM 6...

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Detalles Bibliográficos
Autores principales: Sun, Wenmin, Li, Shiqiang, Jia, Xiaoyun, Wang, Panfeng, Hejtmancik, J. Fielding, Xiao, Xueshan, Zhang, Qingjiong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2020
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7406531/
https://www.ncbi.nlm.nih.gov/pubmed/32248360
http://dx.doi.org/10.1007/s00439-020-02156-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7406531/
https://www.ncbi.nlm.nih.gov/pubmed/32248360
http://dx.doi.org/10.1007/s00439-020-02156-0

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