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

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 study, w...

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Publicat a:Hum Genomics
Autors principals: Tsang, Mandy H.Y., Kwong, Anna K.Y., Chan, Kate L.S., Fung, Jasmine L.F., Yu, Mullin H.C., Mak, Christopher C.Y., Yeung, Kit-San, Rodenburg, Richard J.T., Smeitink, Jan A.M., Chan, Rachel, Tsoi, Thomas, Hui, Joannie, Wong, Shelia S.N, Tai, Shuk-Mui, Chan, Victor C.M., Ma, Che-Kwan, Fung, Sharon T.H., Wu, Shun-Ping, Chak, W.K., Chung, Brian H.Y., Fung, Cheuk-Wing
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2020
Matèries:
Primary Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7488033/
https://ncbi.nlm.nih.gov/pubmed/32907636
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40246-020-00278-0
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