Daniel S Lieber Scott B Vafai Laura C Horton Nancy G Slate Shangtao Liu Mark L Borowsky Sarah E Calvo Jeremy D Schmahmann Vamsi K Mootha
10.1186/1471-2350-13-3
BMC Med Genet
2012 Jan 6;13:3.
CC BY
https://pubmed.ncbi.nlm.nih.gov/22226368/
DNA Mutational Analysis Exome High-Throughput Nucleotide Sequencing Mitochondrial Diseases / diagnosis Wolfram Syndrome / diagnosis
DNA Mutational Analysis Exome High-Throughput Nucleotide Sequencing Mitochondrial Diseases / diagnosis Wolfram Syndrome / diagnosis Case Reports Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, Non-P.H.S. Atrophy Brain / pathology DNA, Mitochondrial / chemistry Diagnosis, Differential Exons Homozygote Humans Magnetic Resonance Imaging Male Membrane Proteins / genetics Middle Aged Mitochondrial Diseases / genetics Mutation, Missense Wolfram Syndrome / genetics DNA, Mitochondrial Membrane Proteins wolframin protein
PMC3281774
22226368
Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease
2012