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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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
Assuntos:
Clinical Reports
Acesso em linha: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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