Ruling in a suspect: the role of AP2S1 mutations in familial hypocalciuric hypercalcemia type 3.
作者信息
Hendy Geoffrey N, Cole David E C
机构信息
PhD, Calcium Research Laboratory, Room H4.67, Royal Victoria Hospital, 687 Pine Avenue West, Montreal, H3A 1A1, Canada.
出版信息
J Clin Endocrinol Metab. 2013 Dec;98(12):4666-9. doi: 10.1210/jc.2013-3616.
Abstract
摘要
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本文引用的文献
1
Identification of AP2S1 mutation and effects of low calcium formula in an infant with hypercalcemia and hypercalciuria.鉴定 1 例婴儿高钙血症和高钙尿症患者的 AP2S1 基因突变，并对其采用低钙配方进行干预。
J Clin Endocrinol Metab. 2013 Dec;98(12):E2022-7. doi: 10.1210/jc.2013-2571. Epub 2013 Sep 30.
2
Germline mutations affecting Gα11 in hypoparathyroidism.影响甲状旁腺功能减退症中Gα11的种系突变。
N Engl J Med. 2013 Jun 27;368(26):2532-4. doi: 10.1056/NEJMc1300278.
3
Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia.影响高钙血症和低钙血症中 G 蛋白亚单位 α11 的突变。
N Engl J Med. 2013 Jun 27;368(26):2476-2486. doi: 10.1056/NEJMoa1300253.
4
Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.AP2S1 基因突变导致家族性低钙尿性高钙血症 3 型。
Nat Genet. 2013 Jan;45(1):93-7. doi: 10.1038/ng.2492. Epub 2012 Dec 9.
5
Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites.在高钙血症和低钙血症患者中鉴定出 70 种钙敏感受体突变：在钙结合位点处的细胞外结构域突变聚集的证据。
Hum Mol Genet. 2012 Jun 15;21(12):2768-78. doi: 10.1093/hmg/dds105. Epub 2012 Mar 14.
6
A new look at vitamin D metabolism and "idiopathic" hypercalcemia.维生素D代谢与“特发性”高钙血症新探
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Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia.CYP24A1 基因（维生素 D24-羟化酶基因）遗传缺陷导致婴儿严重高钙血症。
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Mutations in CYP24A1 and idiopathic infantile hypercalcemia.CYP24A1 基因突变与特发性婴儿高钙血症。
N Engl J Med. 2011 Aug 4;365(5):410-21. doi: 10.1056/NEJMoa1103864. Epub 2011 Jun 15.
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Mild infantile hypercalcemia: diagnostic tests and outcomes.轻度婴儿高钙血症：诊断测试和结果。
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