A FRMD7 variant in a Japanese family causes congenital nystagmus

Idiopathic congenital nystagmus (ICN) is a genetically heterogeneous eye movement disorder that causes a large proportion of childhood visual impairment. Here we describe a missense variant (p.L292P) within a mutation-rich region of FRMD7 detected in three affected male siblings in a Japanese family...

Cur síos iomlán

Na minha lista:
Sonraí Bibleagrafaíochta
Foilsithe in:Hum Genome Var
Main Authors: Kohmoto, Tomohiro, Okamoto, Nana, Satomura, Shigeko, Naruto, Takuya, Komori, Takahide, Hashimoto, Toshiaki, Imoto, Issei
Formáid: Artigo
Teanga:Inglês
Foilsithe: Nature Publishing Group 2015
Ábhair:
Data Report
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4785577/
https://ncbi.nlm.nih.gov/pubmed/27081518
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2015.2
Clibeanna: Cuir Clib Leis
Gan Chlibeanna, Bí ar an gcéad duine leis an taifead seo a chlibeáil!

Míreanna Comhchosúla