Mutational Analysis of the Adaptor Protein 2 Sigma Subunit (AP2S1) Gene: Search for Autosomal Dominant Hypocalcemia Type 3 (ADH3)

CONTEXT: Autosomal dominant hypocalcemia (ADH) types 1 and 2 are due to calcium-sensing receptor (CASR) and G-protein subunit-α11 (GNA11) gain-of-function mutations, respectively, whereas CASR and GNA11 loss-of-function mutations result in familial hypocalciuric hypercalcemia (FHH) types 1 and 2, re...

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Detalhes bibliográficos
Publicado no:J Clin Endocrinol Metab
Main Authors: Rogers, Angela, Nesbit, M. Andrew, Hannan, Fadil M., Howles, Sarah A., Gorvin, Caroline M., Cranston, Treena, Allgrove, Jeremy, Bevan, John S., Bano, Gul, Brain, Caroline, Datta, Vipan, Grossman, Ashley B., Hodgson, Shirley V., Izatt, Louise, Millar-Jones, Lynne, Pearce, Simon H., Robertson, Lisa, Selby, Peter L., Shine, Brian, Snape, Katie, Warner, Justin, Thakker, Rajesh V.
Formato: Artigo
Idioma:Inglês
Publicado em: Endocrine Society 2014
Assuntos:
JCEM Online: Brief Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4447854/
https://ncbi.nlm.nih.gov/pubmed/24708097
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2013-3909
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