✦ LIBER ✦

Common mutations F310L and T1559del in the tissue-nonspecific alkaline phosphatase gene are related to distinct phenotypes in Japanese patients with hypophosphatasia

✍ Scribed by Toshimi Michigami; Takayuki Uchihashi; Akira Suzuki; Kanako Tachikawa; Shigeo Nakajima; Keiichi Ozono

Publisher: Springer
Year: 2005
Tongue: English
Weight: 252 KB
Volume: 164
Category: Article
ISSN: 0340-6997
DOI: 10.1007/s00431-004-1612-9

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

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

Hypophosphatasia: Identification of five

Hypophosphatasia: Identification of five novel missense mutations (G507A, G705A, A748G, T1155C, G1320A) in the tissue-nonspecific alkaline phosphatase gene among Japanese patients

✍ Masae Goseki-Sone; Hideo Orimo; Tadahiro Iimura; Yuzo Takagi; Hisashi Watanabe; 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 537 KB

Characterization of eleven novel mutatio

Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia

✍ A. Taillandier; L. Zurutuza; F. Muller; B. Simon-Bouy; J.L. Serre; L. Bird; R. B 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 20 KB 👁 1 views

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 the characterization of tissue-nonspecific alkaline phosphatase (TNSALP) gene mutations in a s

Fifteen new mutations (-195C>T, L-12X, 2

Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia

✍ A. Taillandier; E. Cozien; F. Muller; Y. Merrien; E. Bonnin; C. Fribourg; B. Sim 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 18 KB 👁 2 views

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