Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3).

Angela Rogers, M. Andrew Nesbit, Fadil M Hannan, Sarah A Howles, Caroline M Gorvin, Treena Cranston, Jeremy Allgrove, John S Bevan, Gul Bano, Caroline Brain, Vipan Datta, Ashley B Grossman, Shirley V Hodgson, Louise Izatt, Lynne Millar-Jones, Simon H Pearce, Lisa Robertson, Peter L Selby, Brian Shine, Katie SnapeJustin Warner, Rajesh V Thakker

Research output: Contribution to journalArticle

15 Citations (Scopus)

Abstract

The absence of AP2S1 abnormalities in hypocalcemic patients, suggests that ADH3 may not occur or otherwise represents a rare hypocalcemic disorder.
Original languageEnglish
Pages (from-to)E1300-5
JournalThe Journal of clinical endocrinology and metabolism
Volume99
Issue number7
Publication statusPublished - 2014

Keywords

  • autosomal dominant hypocalcemia
  • adaptor protein
  • Mutational analysis

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    Rogers, A., Nesbit, M. A., Hannan, F. M., Howles, S. A., Gorvin, C. M., Cranston, T., Allgrove, J., Bevan, J. S., Bano, G., Brain, C., Datta, V., Grossman, A. B., Hodgson, S. V., Izatt, L., Millar-Jones, L., Pearce, S. H., Robertson, L., Selby, P. L., Shine, B., ... Thakker, R. V. (2014). Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3). The Journal of clinical endocrinology and metabolism, 99(7), E1300-5. http://uir.ulster.ac.uk/32240/1/jc%252E2013-3909.pdf