|
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 |
We report the characterization of tissue-nonspecific alkaline phosphatase (TNSALP) gene mutations in a series of 12 families affected by severe or mild hypophosphatasia.
|
10679946 |
2000 |
|
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 |
BEFREE |
This study indicated that the mutant (A115V) TNSALP gene produced the defective ALP enzyme and it could be recessively transmitted and be a disease-causing mutation of the adult-type hypophosphatasia.
|
15629439 |
2005 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
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 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Adult hypophosphatasia (disorder)
|
0.950 |
Biomarker
|
disease |
MGD |
Mice lacking tissue non-specific alkaline phosphatase die from seizures due to defective metabolism of vitamin B-6.
|
7550313 |
1995 |
|
Adult hypophosphatasia (disorder)
|
0.950 |
Biomarker
|
disease |
MGD |
Novel mouse model of autosomal semidominant adult hypophosphatasia has a splice site mutation in the tissue nonspecific alkaline phosphatase gene Akp2.
|
17539739 |
2007 |
|
Adult hypophosphatasia (disorder)
|
0.950 |
Biomarker
|
disease |
MGD |
New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis.
|
22527485 |
2012 |
|
Adult hypophosphatasia (disorder)
|
0.950 |
Biomarker
|
disease |
MGD |
Periodontal Defects in the A116T Knock-in Murine Model of Odontohypophosphatasia.
|
25716980 |
2015 |
|
Adult hypophosphatasia (disorder)
|
0.950 |
GermlineCausalMutation
|
disease |
ORPHANET |
Hypophosphatasia.
|
17916236 |
2007 |
|
Adult hypophosphatasia (disorder)
|
0.950 |
GermlineCausalMutation
|
disease |
ORPHANET |
Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene.
|
10737975 |
2000 |
|
Adult hypophosphatasia (disorder)
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
Mutational analysis and functional correlation with phenotype in German patients with childhood-type hypophosphatasia.
|
11760847 |
2001 |
|
Adult hypophosphatasia (disorder)
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene.
|
12815606 |
2003 |
|
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 |
Severe hypercalcaemia and respiratory insufficiency associated with infantile hypophosphatasia caused by two novel mutations of the tissue-nonspecific alkaline phosphatase gene.
|
10834525 |
2000 |
|
Adult hypophosphatasia (disorder)
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia.
|
9781036 |
1998 |
|
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 |
Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia.
|
11438998 |
2001 |
|
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 |
GeneticVariation
|
disease |
UNIPROT |
Identification of novel missense mutations (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia.
|
8954059 |
1996 |
|
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 |
GeneticVariation
|
disease |
UNIPROT |
Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles.
|
19500388 |
2009 |