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Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency

Meimaridou, E; Kowalczyk, J; Guasti, L; Hughes, CR; Wagner, F; Frommolt, P; Nürnberg, P; Mann, NP; Banerjee, R; Saka, HN; et al. Meimaridou, E; Kowalczyk, J; Guasti, L; Hughes, CR; Wagner, F; Frommolt, P; Nürnberg, P; Mann, NP; Banerjee, R; Saka, HN; Chapple, JP; King, PJ; Clark, AJ; Metherell, LA (2012) Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency. NATURE GENETICS, 44 (7). 740 - 742 (3). ISSN 1061-4036 https://doi.org/10.1038/ng.2299
SGUL Authors: Clark, Adrian John L

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Item Type: Article
Additional Information: PubMed ID: 22634753
Keywords: Adrenal Cortex Neoplasms, Adrenal Glands, Adrenal Insufficiency, Amino Acid Sequence, Animals, Antioxidants, Apoptosis, Cell Line, Tumor, Child, Preschool, Esophageal Achalasia, Exome, Glucocorticoids, Humans, Infant, Male, Mice, Mice, Inbred C57BL, Mitochondria, Molecular Sequence Data, Mutation, NADP Transhydrogenases, Oxidation-Reduction, Reactive Oxygen Species, Sequence Alignment, Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, TRIPLE-A-SYNDROME, OXIDATIVE STRESS, HOMEOSTASIS, METABOLISM, LACKING, MICE
Journal or Publication Title: NATURE GENETICS
ISSN: 1061-4036
Dates:
DateEvent
1 July 2012Published
PubMed ID: 22634753
Web of Science ID: 22634753
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URI: https://openaccess.sgul.ac.uk/id/eprint/101559
Publisher's version: https://doi.org/10.1038/ng.2299

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