CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder
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| Description | scientific article |
| Author/s |
author: Radek Szklarczyk Richard J Rodenburg Saskia B Wortmann Katrin Õunap Joy Yaplito-Lee Clara van Karnebeek Felix Distelmaier Ron A. Wevers Søren W Gersting Christelle Golzio Arjan P M de Brouwer Ania Muntau Frédéric M Vaz Tobias B Haack Ewa Pronicka Christine Klein Tim M Strom Nicholas Katsanis Thomas Meitinger Holger Prokisch Hans van Bokhoven Rafał Płoski Szymon Ziętkiewicz Johannes N Spelbrink |
| Publication date | January 15, 2015 |
| Language | English |
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