|
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 |
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 |
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Natural History of Perinatal and Infantile Hypophosphatasia: A Retrospective Study.
|
30979546 |
2019 |
|
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 |
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 |
|
Adult hypophosphatasia (disorder)
|
0.950 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
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 |
Perinatal hypophosphatasia: radiology, pathology and molecular biology studies in a family harboring a splicing mutation (648+1A) and a novel missense mutation (N400S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene.
|
11745997 |
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 |
Hypophosphatasia: identification of five novel missense mutations (G507A, G705A, A748G, T1155C, G1320A) in the tissue-nonspecific alkaline phosphatase gene among Japanese patients.
|
9452105 |
1998 |
|
Adult hypophosphatasia (disorder)
|
0.950 |
GermlineCausalMutation
|
disease |
ORPHANET |
Hypophosphatasia.
|
17916236 |
2007 |
|
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 |
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 |