Impact of a novel homozygous mutation in nicotinamide nucleotide transhydrogenase on mitochondrial DNA integrity in a case of familial glucocorticoid deficiency

BACKGROUND: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder that is characterized by isolated glucocorticoid deficiency. Recently, mutations in the gene encoding for the mitochondrial nicotinamide nucleotide transhydrogenase (NNT) have been identified as a causative g...

Descripción completa

Detalles Bibliográficos
Autores principales: Fujisawa, Yasuko, Napoli, Eleonora, Wong, Sarah, Song, Gyu, Yamaguchi, Rie, Matsui, Toshiharu, Nagasaki, Keisuke, Ogata, Tsutomu, Giulivi, Cecilia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2014
Materias:
Regular Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4545511/
https://www.ncbi.nlm.nih.gov/pubmed/26309815
http://dx.doi.org/10.1016/j.bbacli.2014.12.003

Ejemplares similares

Ejemplares similares