Beyond Epilepsy and Autism: Disruption of GABRB3 Causes Ocular Hypopigmentation

Reduced ocular pigmentation is common in Angelman syndrome (AS) and Prader-Willi syndrome (PWS) and long thought to be caused by OCA2 deletion. GABRB3 is located in the 15q11-13 region flanked by UBE3A, GABRA5, GABRG3 and OCA2. Mutations in GABRB3 have been frequently associated with epilepsy and au...

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Pubblicato in:Cell Rep
Autori principali: Delahanty, Ryan J., Zhang, Yanfeng, Bichell, Terry Jo, Shen, Wangzhen, Verdier, Kelienne, Macdonald, Robert L., Xu, Lili, Boyd, Kelli, Williams, Janice, Kang, Jing-Qiong
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2016
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5240804/
https://ncbi.nlm.nih.gov/pubmed/28009282
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.celrep.2016.11.067
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