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Functional consequence of a novel Y129C mutation in a patient with two contradictory melanocortin-2-receptor mutations

Chan, LF; Chung, TT; Massoud, AF; Metherell, LA; Clark, AJ (2009) Functional consequence of a novel Y129C mutation in a patient with two contradictory melanocortin-2-receptor mutations. EUROPEAN JOURNAL OF ENDOCRINOLOGY, 160 (4). 705 - 710 (6). ISSN 0804-4643 https://doi.org/10.1530/EJE-08-0636
SGUL Authors: Clark, Adrian John L

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Item Type: Article
Additional Information: PubMed ID: 19151134
Keywords: Adrenocorticotropic Hormone, Alleles, Animals, Blotting, Western, CHO Cells, Cell Line, Cricetinae, Cricetulus, DNA Mutational Analysis, Humans, Immunoprecipitation, Infant, Newborn, Microscopy, Confocal, Mutation, Protein Folding, Receptor, Melanocortin, Type 2, Receptors, Cell Surface, Receptors, Glucocorticoid, Science & Technology, Life Sciences & Biomedicine, Endocrinology & Metabolism, ADRENOCORTICOTROPIN RECEPTOR GENE, FAMILIAL GLUCOCORTICOID DEFICIENCY, ACTH RECEPTOR, STEROIDOGENESIS, ABNORMALITIES, NEOPLASMS, TUMORS, Adrenocorticotropic Hormone, Alleles, Animals, Blotting, Western, CHO Cells, Cell Line, Cricetinae, Cricetulus, DNA Mutational Analysis, Humans, Immunoprecipitation, Infant, Newborn, Microscopy, Confocal, Mutation, Protein Folding, Receptor, Melanocortin, Type 2, Receptors, Cell Surface, Receptors, Glucocorticoid
Journal or Publication Title: EUROPEAN JOURNAL OF ENDOCRINOLOGY
ISSN: 0804-4643
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Dates:
DateEvent
1 April 2009Published
Web of Science ID: WOS:000272934300026
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URI: http://openaccess.sgul.ac.uk/id/eprint/100935
Publisher's version: https://doi.org/10.1530/EJE-08-0636

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