Report of the Third Family with Multiple Mitochondrial Dysfunctions Syndrome 5 Caused by the Founder Variant p.(Glu87Lys) in <i>ISCA1</i>.

Shukla, Anju; Kaur, Parneet; Girisha, Katta M

Report of the Third Family with Multiple Mitochondrial Dysfunctions Syndrome 5 Caused by the Founder Variant p.(Glu87Lys) in ISCA1.

Shukla, Anju; Kaur, Parneet; Girisha, Katta M.

Afiliação

Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India.
Kaur P; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India.
Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India.

J Pediatr Genet ; 7(3): 130-133, 2018 Sep.

Article em En | MEDLINE | ID: mdl-30105122

Palavras-chave

ISCA1; founder effect; multiple mitochondrial dysfunctions syndrome 5

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: J Pediatr Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Índia País de publicação: Alemanha

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