Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis

Purpose. Leber congenital amaurosis (LCA), a genetically and clinically heterogeneous disease, is the earliest onset retinitis pigmentosa (RP) and is the most severe of hereditary retinal dystrophies. This study was conducted to investigate genetic and clinical features of LCA in a set of Japanese m...

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Номзүйн дэлгэрэнгүй

Үндсэн зохиолчид:	Katsuhiro Hosono, Yuko Harada, Kentaro Kurata, Akiko Hikoya, Miho Sato, Shinsei Minoshima, Yoshihiro Hotta
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	Wiley 2015-01-01
Цуврал:	Journal of Ophthalmology
Онлайн хандалт:	http://dx.doi.org/10.1155/2015/693468
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!