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Characterization of Six Missense Mutations in the Tissue-Nonspecific Alkaline Phosphatase (TNSALP) Gene in Chinese Children with Hypophosphatasia

Aims: Hypophosphatasia, a rare inherited disease characterized by defective mineralization of bone and teeth, is caused by various mutations in the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP) gene. Our aim was to determine the mutations on TNSALP gene in three Chinese children diag...

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Sábháilte in:
Príomhchruthaitheoirí: Haiou Yang, Lili Wang, Juan Geng, Tingting Yu, Ru-en Yao, Yongnian Shen, Lei Yin, Daming Ying, Rongkui Huang, Yunfang Zhou, Huijin Chen, Lanbo Liu, Xi Mo, Yiping Shen, Qihua Fu, Yongguo Yu
Formáid: Artigo
Teanga:Inglês
Foilsithe / Cruthaithe: Cell Physiol Biochem Press GmbH & Co KG 2013-09-01
Sraith:Cellular Physiology and Biochemistry
Ábhair:
Hypophosphatasia
Tissue-nonspecific alkaline phosphatase (TNSALP) gene
Gene mutation analysis
Plasmids
Enzymatic activity
Rochtain ar líne:http://www.karger.com/Article/FullText/354467
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