Identification of a novel splice site mutation in the SERAC1 gene responsible for the MEGDHEL syndrome
Abstract Background MEGDHEL is an autosomal recessive syndrome defined as 3‐MEthylGlutaconic aciduria (3‐MGA) with Deafness, Hepatopathy, Encephalopathy, and Leigh‐like syndrome on magnetic resonance imaging, due to mutations in the SERAC1 (Serine Active Site Containing 1) gene, which plays a role i...
Main Authors: | , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Wiley
2019-08-01
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Series: | Molecular Genetics & Genomic Medicine |
Subjects: | |
Online Access: | https://doi.org/10.1002/mgg3.815 |