Identification of a novel splice site mutation in the SERAC1 gene responsible for the MEGDHEL syndrome

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 in the mi...

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Опубликовано в: :Mol Genet Genomic Med
Главные авторы: Snanoudj, Sarah, Mordel, Patrick, Dupas, Quentin, Schanen, Cécile, Arion, Alina, Gérard, Marion, Read, Marie‐Hélène, Nait Rabah, Djamel, Goux, Didier, Chapon, Françoise, Jokic, Mickael, Allouche, Stéphane
Формат: Artigo
Язык:Inglês
Опубликовано: John Wiley and Sons Inc. 2019
Предметы:
Clinical Reports
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC6687635/
https://ncbi.nlm.nih.gov/pubmed/31251474
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.815
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