Identification of a single MPV17 nonsense-associated altered splice variant in 24 South African infants with mitochondrial neurohepatopathy.

Meldau, S; De Lacy, R J; Riordan, G T M; Goddard, E A; Pillay, K; Fieggen, K J; Marais, A D; Van der Watt, G F

Meldau, S; De Lacy, R J; Riordan, G T M; Goddard, E A; Pillay, K; Fieggen, K J; Marais, A D; Van der Watt, G F.

Afiliação

Meldau S; Division of Chemical Pathology, Department of Pathology, Groote Schuur and Red Cross War Memorial Children's Hospital, University of Cape Town and National Health Laboratory Service, Cape Town, South Africa.
De Lacy RJ; Division of Paediatric Gastroenterology, Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, University of Cape Town, Cape Town, South Africa.
Riordan GTM; Division of Paediatric Neurology, Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, University of Cape Town, Cape Town, South Africa.
Goddard EA; Division of Paediatric Gastroenterology, Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, University of Cape Town, Cape Town, South Africa.
Pillay K; Division of Anatomical Pathology, Department of Pathology, Red Cross War Memorial Children's Hospital, University of Cape Town and National Health Laboratory Service, Cape Town, South Africa.
Fieggen KJ; Division of Human Genetics, Department of Medicine, Groote Schuur Hospital, University of Cape Town, Cape Town, South Africa.
Marais AD; Division of Chemical Pathology, Department of Pathology, Groote Schuur and Red Cross War Memorial Children's Hospital, University of Cape Town and National Health Laboratory Service, Cape Town, South Africa.
Van der Watt GF; Division of Chemical Pathology, Department of Pathology, Groote Schuur and Red Cross War Memorial Children's Hospital, University of Cape Town and National Health Laboratory Service, Cape Town, South Africa.

Clin Genet ; 93(5): 1093-1096, 2018 05.

Article em En | MEDLINE | ID: mdl-29318572

Assuntos

Degeneração Hepatolenticular/genética; Proteínas de Membrana/genética; Mitocôndrias/genética; Doenças Mitocondriais/genética; Proteínas Mitocondriais/genética; Códon sem Sentido/genética; Feminino; Degeneração Hepatolenticular/patologia; Homozigoto; Humanos; Lactente; Masculino; Mitocôndrias/patologia; Doenças Mitocondriais/patologia; Sítios de Splice de RNA/genética; Splicing de RNA; África do Sul/epidemiologia

Palavras-chave

MPV17; Mitochondrial DNA depletion syndrome; Mitochondrial neurohepatopathy; Nonsense associated altered splicing; South Africa

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Mitocondriais / Proteínas Mitocondriais / Degeneração Hepatolenticular / Proteínas de Membrana / Mitocôndrias Tipo de estudo: Diagnostic_studies / Risk_factors_studies Limite: Female / Humans / Infant / Male País/Região como assunto: Africa Idioma: En Revista: Clin Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: África do Sul País de publicação: Dinamarca

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