Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population

Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population

Abstract Background Mitochondrial diseases (MDs) are a group of clinically and genetically heterogeneous disorders characterized by defects in oxidative phosphorylation. Since clinical phenotypes of MDs may be non-specific, genetic diagnosis is crucial for guiding disease management. In the current...

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Bibliographic Details
Main Authors: Mandy H.Y. Tsang, Anna K.Y. Kwong, Kate L.S. Chan, Jasmine L.F. Fung, Mullin H.C. Yu, Christopher C.Y. Mak, Kit-San Yeung, Richard J.T. Rodenburg, Jan A.M. Smeitink, Rachel Chan, Thomas Tsoi, Joannie Hui, Shelia S.N Wong, Shuk-Mui Tai, Victor C.M. Chan, Che-Kwan Ma, Sharon T.H. Fung, Shun-Ping Wu, W.K. Chak, Brian H.Y. Chung, Cheuk-Wing Fung
Format: Article
Language:English
Published: BMC 2020-09-01
Series:Human Genomics
Subjects:
Mitochondrial disease
Paediatrics
Whole-exome sequencing
Online Access:http://link.springer.com/article/10.1186/s40246-020-00278-0

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