一种以隐性方式导致低钙血症的功能获得性 CASR 突变。
A Gain-of-Function CASR Mutation Causing Hypocalcemia in a Recessive Manner.
机构信息
Endocrine Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts.
出版信息
J Clin Endocrinol Metab. 2018 Sep 1;103(9):3514-3515. doi: 10.1210/jc.2018-01340.
Abstract
A new gain-of-function CASR mutation has been described as a cause of hypocalcemia. This mutation, unlike other such mutations, is inherited recessively and has implications in genetic evaluation.
摘要
一个新的功能获得性 CASR 突变被描述为低钙血症的一个原因。与其他此类突变不同，该突变是隐性遗传的，这对遗传评估有影响。
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