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Etienne Mornet
BEST PRACTICE & RESEARCH IN CLINICAL RHEUMATOLOGY (2008)
Molecular effects of the tissue-nonspecific alkaline phosphatase gene polymorphism (787T > C) associated with bone mineral density
Natsuko Sogabe et al.
BIOMEDICAL RESEARCH-TOKYO (2008)
A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type protein
A. S. Lia-Baldini et al.
HUMAN GENETICS (2008)
Functional analysis of the single nucleotide polymorphism (787T>C) in the tissue-nonspecific alkaline phosphatase gene associated with BMD
M Goseki-Sone et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2005)
Characterization of the mutant (A115V) tissue-nonspecific alkaline phosphatase gene from adult-type hypophosphatasia
H Watanabe et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2005)
Tissue-nonspecific alkaline phosphatase with an Asp289→Val mutation fails to reach the cell surface and undergoes proteasome-mediated degradation
Y Ishida et al.
JOURNAL OF BIOCHEMISTRY (2003)
Function of mutant (G1144A) tissue-nonspecific ALP gene from hypophosphatasia
H Watanabe et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2002)
Evidence of a founder effect for the tissue-nonspecific alkaline phosphatase (TNSALP) gene E174K mutation in hypophosphatasia patients
M Hérasse et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2002)
Kinetic characterization of hypophosphatasia mutations with physiological substrates
S Di Mauro et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2002)
Mutational analysis and functional correlation with phenotype in German patients with childhood-type hypophosphatasia
H Orimo et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2001)
Structural evidence for a functional role of human tissue nonspecific alkaline phosphatase in bone mineralization
E Mornet et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
A molecular approach to dominance in hypophosphatasia
AS Lia-Baldini et al.
HUMAN GENETICS (2001)
Crystal structure of alkaline phosphatase from human placenta at 1.8 A resolution -: Implication for a substrate specificity
MH Le Du et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
Characterization of a family with dominant hypophosphatasia
JCC Hu et al.
EUROPEAN JOURNAL OF ORAL SCIENCES (2000)
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