Mutations in TRPM1 Are a Common Cause of Complete Congenital Stationary Night Blindness

Congenital stationary night blindness (CSNB) is a clinically and genetically heterogeneous group of retinal disorders characterized by nonprogressive impaired night vision and variable decreased visual acuity. We report here that six out of eight female probands with autosomal-recessive complete CSN...

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保存先:
書誌詳細
主要な著者: van Genderen, Maria M., Bijveld, Mieke M.C., Claassen, Yvonne B., Florijn, Ralph J., Pearring, Jillian N., Meire, Francoise M., McCall, Maureen A., Riemslag, Frans C.C., Gregg, Ronald G., Bergen, Arthur A.B., Kamermans, Maarten
フォーマット: Artigo
言語:Inglês
出版事項: Elsevier 2009
主題:
Report
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC2775826/
https://ncbi.nlm.nih.gov/pubmed/19896109
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.10.012
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