|
Adult hypophosphatasia (disorder)
|
0.950 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Adult hypophosphatasia (disorder)
|
0.950 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Adult hypophosphatasia (disorder)
|
0.950 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Adult hypophosphatasia (disorder)
|
0.950 |
GeneticVariation
|
disease |
BEFREE |
Mild hypophosphatasia (HPP) phenotype may result from ALPL gene mutations exhibiting residual alkaline phosphatase activity or from severe heterozygous mutations exhibiting a dominant negative effect.
|
19500388 |
2009 |
|
Adult hypophosphatasia (disorder)
|
0.950 |
GeneticVariation
|
disease |
BEFREE |
Adult hypophosphatasia (HPP) is characterized by low serum alkaline phosphatase (S-ALP) and poorly healing fractures due to ALPL gene mutations.
|
20739387 |
2010 |
|
Adult hypophosphatasia (disorder)
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
A dimerization defect caused by a glycine substitution at position 420 by serine in tissue-nonspecific alkaline phosphatase associated with perinatal hypophosphatasia.
|
23039266 |
2012 |
|
Adult hypophosphatasia (disorder)
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
A homoallelic Gly317-->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites.
|
8406453 |
1993 |
|
Adult hypophosphatasia (disorder)
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia.
|
3174660 |
1988 |
|
Adult hypophosphatasia (disorder)
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
A molecular approach to dominance in hypophosphatasia.
|
11479741 |
2001 |
|
Adult hypophosphatasia (disorder)
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
A novel missense mutation of the tissue-nonspecific alkaline phosphatase gene detected in a patient with hypophosphatasia.
|
9747027 |
1998 |
|
Adult hypophosphatasia (disorder)
|
0.950 |
GeneticVariation
|
disease |
BEFREE |
A novel point mutation (C571T) in the tissue-non-specific alkaline phosphatase gene in a case of adult-type hypophosphatasia.
|
11834095 |
2001 |
|
Adult hypophosphatasia (disorder)
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
A novel point mutation (C571T) in the tissue-non-specific alkaline phosphatase gene in a case of adult-type hypophosphatasia.
|
11834095 |
2001 |
|
Adult hypophosphatasia (disorder)
|
0.950 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Adult hypophosphatasia treated with teriparatide.
|
17213282 |
2007 |
|
Adult hypophosphatasia (disorder)
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
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.
|
23688511 |
2013 |
|
Adult hypophosphatasia (disorder)
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
Asp361Val Mutant of alkaline phosphatase found in patients with dominantly inherited hypophosphatasia inhibits the activity of the wild-type enzyme.
|
10690885 |
2000 |
|
Adult hypophosphatasia (disorder)
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype-phenotype correlations.
|
15694177 |
2005 |
|
Adult hypophosphatasia (disorder)
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
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. Mutations in brief no. 217. Online.
|
10094560 |
1999 |
|
Adult hypophosphatasia (disorder)
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
Correlations of genotype and phenotype in hypophosphatasia.
|
10332035 |
1999 |
|
Adult hypophosphatasia (disorder)
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
Denaturing gradient gel electrophoresis analysis of the tissue nonspecific alkaline phosphatase isoenzyme gene in hypophosphatasia.
|
11855933 |
2002 |
|
Adult hypophosphatasia (disorder)
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia.
|
1409720 |
1992 |
|
Adult hypophosphatasia (disorder)
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
Disulfide bonds are critical for tissue-nonspecific alkaline phosphatase function revealed by analysis of mutant proteins bearing a C(201)-Y or C(489)-S substitution associated with severe hypophosphatasia.
|
22266140 |
2012 |
|
Adult hypophosphatasia (disorder)
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
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.
|
10679946 |
2000 |
|
Adult hypophosphatasia (disorder)
|
0.950 |
GeneticVariation
|
disease |
CLINVAR |
Functional assay of the mutant tissue-nonspecific alkaline phosphatase gene using U2OS osteoblast-like cells.
|
18455459 |
2008 |
|
Adult hypophosphatasia (disorder)
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
Glu274Lys/Gly309Arg mutation of the tissue-nonspecific alkaline phosphatase gene in neonatal hypophosphatasia associated with convulsions.
|
11999978 |
2002 |
|
Adult hypophosphatasia (disorder)
|
0.950 |
GermlineCausalMutation
|
disease |
ORPHANET |
Hypophosphatasia.
|
17916236 |
2007 |