Neuropediatrics, Table of Contents Neuropediatrics 2017; 48(S 01): S1-S45DOI: 10.1055/s-0037-1602937 PP – Poster Presentations Georg Thieme Verlag KG Stuttgart · New YorkNDUFV1: Identification of a Homozygous Mutation in a Patient with Leukodystrophy G. Szeles 1 UKGM Neuropediatrics, Germany , B. A. Neubauer 1 UKGM Neuropediatrics, Germany› Author AffiliationsRecommend Article Abstract Full Text References Bibliography Varghese F, Atcheson E, Bridges HR, Hirst J.. Characterization of clinically identified mutations in NDUFV1, the flavin-binding subunit of respiratory complex I, using a yeast model system. Hum Mol Genet 2015; 24 (22) 6350-6360 omim.org/entry/25600 https://www.illumina.com/products/by-type/clinical-research-products/trusight-one.html Mutation taster: file:///E:/NGS/TruSight_one/Daten/Flowcell_10/VariantStudio_TSO_FC10/996/Filtered_Variants/ohneGenlist/Im%20Vergleich%20mit%20Fam.Angeh%C3%B6rigen/NDUFV1_67379443.htm
