LRRTM4-C538Y novel gene mutation is associated with hereditary macular degeneration with novel dysfunction of ON-type bipolar cells

The macula is a unique structure in higher primates, where cone and rod photoreceptors show highest density in the fovea and the surrounding area, respectively. The hereditary macular dystrophies represent a heterozygous group of rare disorders characterized by central visual loss and atrophy of the...

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Veröffentlicht in:	Journal of human genetics 2018-08, Vol.63 (8), p.893-900
Hauptverfasser:	Kawamura, Yuichi, Suga, Akiko, Fujimaki, Takuro, Yoshitake, Kazutoshi, Tsunoda, Kazushige, Murakami, Akira, Iwata, Takeshi
Format:	Artikel
Sprache:	eng
Schlagworte:	Atrophy Bipolar cells Dystrophy Eye Gene polymorphism Genetic analysis Genetic diversity Macular degeneration Mutation Phenotypes Photoreceptors Point mutation Retina Single-nucleotide polymorphism
Online-Zugang:	Volltext
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