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...

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Veröffentlicht in:	Human genome variation 2015-02, Vol.2 (1), p.15002-15002, Article 15002
Hauptverfasser:	Kohmoto, Tomohiro, Okamoto, Nana, Satomura, Shigeko, Naruto, Takuya, Komori, Takahide, Hashimoto, Toshiaki, Imoto, Issei
Format:	Artikel
Sprache:	eng
Schlagworte:	631/208/2489/144 631/208/2489/1512 631/208/737 692/308/2056 Biomedical and Life Sciences Biomedicine Data Report Gene Expression Gene Function Gene Therapy Human Genetics Molecular Medicine
Online-Zugang:	Volltext
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