Literature DB >> 26467484

A splice site mutation in ATP6AP2 causes X-linked intellectual disability, epilepsy, and parkinsonism.

Harsh V Gupta1, Jaime Vengoechea2, Kinshuk Sahaya3, Tuhin Virmani4.   

Abstract

Entities:  

Keywords:  ATP6AP2; Epilepsy; Intellectual disability; Parkinsonism

Mesh：

Substances：

Year:  2015        PMID： 26467484     DOI： 10.1016/j.parkreldis.2015.10.001

Source DB:  PubMed          Journal:  Parkinsonism Relat Disord        ISSN： 1353-8020            Impact factor:   4.891


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