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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Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Elsevier 2009
Gaiak:
Report
Sarrera elektronikoa: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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