Identification of extremely rare mitochondrial disorders by whole exome sequencing
Identification of extremely rare mitochondrial disorders by whole exome sequencing
About this item
Full title
Author / Creator
Seo, Go Hun , Oh, Arum , Kim, Eun Na , Lee, Yeonmi , Park, Jumi , Kim, Taeho , Lim, Young-Min , Kim, Gu-Hwan , Kim, Chong Jai , Yoo, Han-Wook , Kang, Eunju and Lee, Beom Hee
Publisher
England: Nature Publishing Group
Journal title
Language
English
Formats
Publication information
Publisher
England: Nature Publishing Group
Subjects
More information
Scope and Contents
Contents
Whole exome sequencing (WES) is an effective tool for the genetic diagnosis of mitochondrial disorders due to various nuclear genetic defects. In this study, three patients affected by extremely rare mitochondrial disorders caused by nuclear genetic defects are described. The medical records of each patient were reviewed to obtain clinical symptoms...
Alternative Titles
Full title
Identification of extremely rare mitochondrial disorders by whole exome sequencing
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_2281103599
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2281103599
Other Identifiers
ISSN
1434-5161
E-ISSN
1435-232X
DOI
10.1038/s10038-019-0660-y
