Literature DB >> 9452105

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

M Goseki-Sone1, H Orimo, T Iimura, Y Takagi, H Watanabe, K Taketa, S Sato, H Mayanagi, T Shimada, S Oida.   

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Year:  1998        PMID： 9452105     DOI： 10.1002/humu.1380110184

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  6 in total

1.  Possible interference between tissue-non-specific alkaline phosphatase with an Arg54-->Cys substitution and acounterpart with an Asp277-->Ala substitution found in a compound heterozygote associated with severe hypophosphatasia.

Authors:  M Fukushi-Irié; M Ito; Y Amaya; N Amizuka; H Ozawa; S Omura; Y Ikehara; K Oda
Journal:  Biochem J       Date:  2000-06-15       Impact factor: 3.857

2.  Molecular evolution of the tissue-nonspecific alkaline phosphatase allows prediction and validation of missense mutations responsible for hypophosphatasia.

Authors:  Jérémie Silvent; Barbara Gasse; Etienne Mornet; Jean-Yves Sire
Journal:  J Biol Chem       Date:  2014-07-14       Impact factor: 5.157

3.  Outcome of perinatal hypophosphatasia in manitoba mennonites: a retrospective cohort analysis.

Authors:  Edward C W Leung; Aizeddin A Mhanni; Martin Reed; Michael P Whyte; Hal Landy; Cheryl R Greenberg
Journal:  JIMD Rep       Date:  2013-04-12

4.  Chronic Hypercapnic Respiratory Failure in an Adult Patient with Silver-Russell Syndrome.

Authors:  Mariko Hakamata; Satoshi Hokari; Yasuyoshi Ohshima; Masayo Kagami; Sakae Saito; Ikuko N Motoike; Taiki Abe; Nobumasa Aoki; Masachika Hayashi; Satoshi Watanabe; Toshiyuki Koya; Toshiaki Kikuchi
Journal:  Intern Med       Date:  2021-02-01       Impact factor: 1.271

Review 5.  Hypophosphatasia.

Authors:  Etienne Mornet
Journal:  Orphanet J Rare Dis       Date:  2007-10-04       Impact factor: 4.123

6.  Japanese nationwide survey of hypophosphatasia reveals prominent differences in genetic and dental findings between odonto and non-odonto types.

Authors:  Rena Okawa; Kazuma Kokomoto; Taichi Kitaoka; Takuo Kubota; Atsushi Watanabe; Takeshi Taketani; Toshimi Michigami; Keiichi Ozono; Kazuhiko Nakano
Journal:  PLoS One       Date:  2019-10-10       Impact factor: 3.240
  6 in total

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