Identification of a novel GRM6 mutation in a previously described consanguineous family with complete congenital stationary night blindness.
作者信息
Tourville Aurore, Michiels Christelle, Condroyer Christel, Meunier Audrey, Cordonnier Monique, Sahel José-Alain, Audo Isabelle, Abramowicz Marc, Zeitz Christina
机构信息
a Institut de la Vision , Sorbonne Université, INSERM, CNRS , Paris , France.
b Department of Ophthalmology , Centre Hospitalier Universitaire Saint-Pierre , Brussels , Belgium.
出版信息
Ophthalmic Genet. 2019 Apr;40(2):182-184. doi: 10.1080/13816810.2019.1605389.
Abstract
摘要
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