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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Номзүйн дэлгэрэнгүй

Үндсэн зохиолчид:	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
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	Cell Physiol Biochem Press GmbH & Co KG 2013-09-01
Цуврал:	Cellular Physiology and Biochemistry
Нөхцлүүд:	Hypophosphatasia Tissue-nonspecific alkaline phosphatase (TNSALP) gene Gene mutation analysis Plasmids Enzymatic activity
Онлайн хандалт:	http://www.karger.com/Article/FullText/354467
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!