A novel mutation in the SERAC1 gene correlates with the severe manifestation of the MEGDEL phenotype, as revealed by whole-exome sequencing.

Alagoz, Meryem; Kherad, Nasim; Turkmen, Selda; Bulut, Hatice; Yuksel, Adnan

Alagoz, Meryem; Kherad, Nasim; Turkmen, Selda; Bulut, Hatice; Yuksel, Adnan.

Afiliación

Alagoz M; Department of Molecular Biology and Genetics, Genome Centre, Biruni University, Istanbul 34010, Turkey.
Kherad N; Department of Molecular Biology and Genetics, Genome Centre, Biruni University, Istanbul 34010, Turkey.
Turkmen S; Department of Medical Biology, Istanbul Cerrahpasa University, Istanbul 34096, Turkey.
Bulut H; Faculty of Medicine, Biruni University Hospital, Istanbul 34010, Turkey.
Yuksel A; Faculty of Medicine, Biruni University Hospital, Istanbul 34010, Turkey.

Exp Ther Med ; 19(6): 3505-3512, 2020 Jun.

Article en En | MEDLINE | ID: mdl-32346411

Palabras clave

3-methylglutaconic aciduria with deafness; SERAC1 gene; encephalopathy and Leigh-like syndrome; mutation; rare disease; serine active site-containing protein 1; whole-exome sequencing

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Idioma: En Revista: Exp Ther Med Año: 2020 Tipo del documento: Article País de afiliación: Turquía

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