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
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| 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: |
| Date | Event |
|---|
| 1 July 2012 | Published |
|
| PubMed ID: |
22634753 |
| Web of Science ID: |
22634753 |
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Go to PubMed abstract |
| URI: |
https://openaccess.sgul.ac.uk/id/eprint/101559 |
| Publisher's version: |
https://doi.org/10.1038/ng.2299 |
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