Exome Sequencing Identifies a Novel Homozygous Missense ATP13A2 Mutation

Autor:	Kailash P. Bhatia, Una-Marie Sheerin, Masoom M. Abbas, Uday B. Muthane, Shyla T. Govindappa
Rok vydání:	2016
Předmět:	0301 basic medicine Genetics Case Reports Biology 03 medical and health sciences 030104 developmental biology 0302 clinical medicine Neurology Kufor Rakeb syndrome Mutation (genetic algorithm) Missense mutation Neurology (clinical) 030217 neurology & neurosurgery Exome sequencing
Zdroj:	Movement Disorders Clinical Practice. 4:132-135
ISSN:	2330-1619
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2e64d65f805912b88a6e70aa9402430 https://doi.org/10.1002/mdc3.12353 Zobrazit plný text záznamu Plný text