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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687635/
https://www.ncbi.nlm.nih.gov/pubmed/31251474
http://dx.doi.org/10.1002/mgg3.815

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