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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Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Hum Genet
Asıl Yazarlar: Sun, Wenmin, Li, Shiqiang, Jia, Xiaoyun, Wang, Panfeng, Hejtmancik, J. Fielding, Xiao, Xueshan, Zhang, Qingjiong
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Springer Berlin Heidelberg 2020
Konular:
Original Investigation
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7406531/
https://ncbi.nlm.nih.gov/pubmed/32248360
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-020-02156-0
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