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A Family of Autosomal Dominant Hypocalcemia with a Positive Correlation between Serum Calcium and Magnesium: Identification of a Novel Gain of Function Mutation (Ser820Phe) in the Calcium-Sensing Receptor

机译：血清钙和镁之间的常染色体显性低钙血症系列常相关性：鉴定钙传感受体中功能突变（Ser82Mphe）的新增新增型

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Terumasa Nagase; Takehiko Murakami; Toshihiko Tsukada; Ryuichi Kitamura; Noriko Chikatsu; Hiroki Takeo; Nobuki Takata; Hiroko Yasuda; Seiji Fukumoto; Yuji Tanaka; Naokazu Nagata; Ken Yamaguchi; Takuhiko Akatsu; Michiko Yamamoto;
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年度 2002
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1. A family of autosomal dominant hypocalcemia with an activating mutation of calcium-sensing receptor gene. [J] . Chikatsu N, Watanabe S, Takeuchi Y, Endocrine journal . 2003,第1期

机译：常染色体显性低钙血症家族，具有钙敏感受体基因的激活突变。
2. A Family of Autosomal Dominant Hypocalcemia with an Activating Mutation of Calcium-Sensing Receptor Gene [J] . NORIKO CHIKATSU, SEIJI FUKUMOTO, SHINSUKE SASAKI, Endocrine journal . 2003,第1期

机译：钙敏感受体基因的激活突变的常染色体显性低钙血症家族。
3. A novel activating mutation (C129S) in the calcium-sensing receptor gene in a Japanese family with autosomal dominant hypocalcemia. [J] . Hirai H, Nakajima S, Miyauchi A, Journal of human genetics . 2001,第1期

机译：在常染色体显性遗传性低钙血症的日本家庭中，钙敏感受体基因中出现了一个新的激活突变（C129S）。
4. Identification of Calcium-dependent Protein Kinase (CDPK): a Multi-functional Gene Family in Rafflesia cantleyi [C] . Safoora Amini, Hoe-Han Goh, Kiew-Lian Wan UKM FST Postgraduate Colloquium . 2016

机译：依赖钙依赖性蛋白激酶（CDPK）：Rafflesia Cantleyi的多功能基因家族
5. Genomic study and mutation functional analysis of autosomal dominant congenital cataract. [D] . Zhang, Liyun. 2007

机译：常染色体显性先天性白内障的基因组研究和突变功能分析。
6. Identification and Functional Characterization of a Novel Mutation in the Human Calcium-Sensing Receptor That Co-Segregates With Autosomal-Dominant Hypocalcemia [O] . Anne Qvist Rasmussen, Niklas Rye Jørgensen, Peter Schwarz 2018

机译：人钙敏感受体与常染色体显性低血钙症共分离的新型突变的鉴定和功能表征
7. A Family of Autosomal Dominant Hypocalcemia with a Positive Correlation between Serum Calcium and Magnesium: Identification of a Novel Gain of Function Mutation (Ser820Phe) in the Calcium-Sensing Receptor [O] . T. Nagase 2002

机译：血清钙和镁之间的常染色体显性低钙血症系列常相关性：鉴定钙传感受体中功能突变（Ser82Mphe）的新增新增型

A Family of Autosomal Dominant Hypocalcemia with a Positive Correlation between Serum Calcium and Magnesium: Identification of a Novel Gain of Function Mutation (Ser820Phe) in the Calcium-Sensing Receptor

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