✦ LIBER ✦

Identification of the Mutations in the Tissue-nonspecific Alkaline Phosphatase Gene in Two Chinese Families with Hypophosphatasia

✍ Scribed by Hao Zhang; Yao-Hua Ke; Chun Wang; Hua Yue; Wei-Wei Hu; Jie-Mei Gu; Zhen-Lin Zhang

Book ID: 113467574
Publisher: Elsevier Science
Year: 2012
Tongue: English
Weight: 964 KB
Volume: 43
Category: Article
ISSN: 0188-4409
DOI: 10.1016/j.arcmed.2012.01.004

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Hypophosphatasia: The mutations in the t

Hypophosphatasia: The mutations in the tissue-nonspecific alkaline phosphatase gene

✍ Etienne Mornet 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 189 KB 👁 1 views

Communicated by

Identification of fifteen novel mutation

Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia

✍ Mornet, E; Taillandier, A; Peyramaure, S; Kaper, F; Muller, F; Brenner, R; Bussi 📂 Article 📅 1998 🏛 Nature Publishing Group 🌐 English ⚖ 87 KB

G317D mutation in the tissue-nonspecific

G317D mutation in the tissue-nonspecific alkaline phosphatase gene associated with childhood hypophosphatasia in a German family

✍ H. Orimo; Y. S. Shin; T. Shimada 📂 Article 📅 2002 🏛 Springer 🌐 English ⚖ 37 KB

A novel missense mutation of the tissue-

A novel missense mutation of the tissue-nonspecific alkaline phosphatase gene detected in a patient with hypophosphatasia

✍ N. Sugimoto; Sadahiko Iwamoto; Yuichi Hoshino; Eiji Kajii 📂 Article 📅 1998 🏛 Nature Publishing Group 🌐 English ⚖ 541 KB

Twelve novel mutations in the tissue-non

Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia

✍ A. Taillandier; A.S. Lia-Baldini; M. Mouchard; B. Robin; F. Muller; B. Simon-Bou 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 21 KB

Hypophosphatasia is a rare inherited disorder characterized by defective bone mineralization and deficiency of serum and tissue liver/bone/kidney tissue alkaline phosphatase (L/B/K ALP) activity. We report here the characterization of tissue-nonspecific alkaline phosphatase (TNSALP) gene mutations i

Childhood Hypophosphatasia Due to a de N

Childhood Hypophosphatasia Due to a de Novo Missense Mutation in the Tissue-Nonspecific Alkaline Phosphatase Gene

✍ Taillandier, A.; Sallinen, S.-L.; Brun-Heath, I.; De Mazancourt, P.; Serre, J.-L 📂 Article 📅 2005 🏛 Endocrine Society 🌐 English ⚖ 118 KB