An asparagine at position 417 of tissue-nonspecific alkaline phosphatase is essential for its structure and function as revealed by analysis of the N417S mutation associated with severe hypophosphatasia-Reference-Cited by-同舟云学术

An asparagine at position 417 of tissue-nonspecific alkaline phosphatase is essential for its structure and function as revealed by analysis of the N417S mutation associated with severe hypophosphatasia

Published:2013-07 Issue:3 Volume:109 Page:282-288
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Sultana Sara,Al-Shawafi Hiba A.,Makita Saori,Sohda Miwa,Amizuka Norio,Takagi Ritsuo,Oda Kimimitsu

Funder

Ministry of Education, Culture, Sports, Science, and Technology of Japan

Ministry of Health, Labour, and Welfare of Japan

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference38 articles.

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2. Hypophosphatasia orphanet;Mornet;J. Rare Dis.,2007

3. Physiological role of alkaline phosphatase explored in hypophosphatasia;Whyte;Ann. N. Y. Acad. Sci.,2010

4. Mice lacking tissue non-specific alkaline phosphatase die from seizures due to defective metabolism of vitamin B-6;Waymire;Nat. Genet.,1995

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