Article
Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10.
Human mutation - 1 Jan 2021
Helman Guy, Compton Alison G, Hock Daniella H, Walkiewicz Marzena, Brett Gemma R, Pais Lynn, Tan Tiong Y, De Paoli-Iseppi Ricardo, Clark Michael B, Christodoulou John, White Susan M, Thorburn David R, Stroud David A, Stark Zornitza, Simons Cas
Abstract excerpt
The diagnosis of Mendelian disorders following uninformative exome and genome sequencing remains a challenging and often unmet need. Following uninformative exome and genome sequencing of a family quartet including two siblings with suspected mitochondrial disorder, RNA sequencing (RNAseq) was pursued in one sibling. Long-read amplicon sequencing was used to determine and quantify transcript structure....
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