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MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans

Hughes, CR; Guasti, L; Meimaridou, E; Chuang, CH; Schimenti, JC; King, PJ; Costigan, C; Clark, AJ; Metherell, LA (2012) MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans. JOURNAL OF CLINICAL INVESTIGATION, 122 (3). 814 - 820 (7). ISSN 0021-9738 https://doi.org/10.1172/JCI60224
SGUL Authors: Clark, Adrian John L

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Item Type: Article
Additional Information: PubMed ID: 22354170
Keywords: Science & Technology, Life Sciences & Biomedicine, Medicine, Research & Experimental, Research & Experimental Medicine, CHROMOSOME INSTABILITY, ADULT-MOUSE, REPLICATION, PROTEINS, EXPRESSION, CANCER, MICE, HYPERPLASIA, DISEASE, Adrenal Insufficiency, Animals, Body Height, Cell Cycle Proteins, DNA Helicases, DNA-Binding Proteins, Female, Genotype, HEK293 Cells, Humans, Killer Cells, Natural, Male, Mice, Mutation, Nuclear Proteins, Pedigree, Phenotype, Protein Isoforms, Sequence Analysis, DNA
Journal or Publication Title: JOURNAL OF CLINICAL INVESTIGATION
ISSN: 0021-9738
Dates:
DateEvent
1 March 2012Published
Web of Science ID: WOS:000301021500009
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URI: http://sgultest.da.ulcc.ac.uk/id/eprint/101191
Publisher's version: https://doi.org/10.1172/JCI60224

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