|
Adult hypophosphatasia (disorder)
|
|
0.700 |
GeneticVariation
|
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)
|
|
0.700 |
GeneticVariation
|
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)
|
|
0.700 |
GeneticVariation
|
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)
|
|
0.700 |
GeneticVariation
|
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)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
[Childhood hypophosphatasia: a case report due to a novel mutation].
|
15135428 |
2004 |
|
Adult hypophosphatasia (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene.
|
12815606 |
2003 |
|
Adult hypophosphatasia (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Molecular study of three cases of odontohypophosphatasia resulting from heterozygosity for mutations in the tissue non-specific alkaline phosphatase gene.
|
12920074 |
2003 |
|
Adult hypophosphatasia (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Glu274Lys/Gly309Arg mutation of the tissue-nonspecific alkaline phosphatase gene in neonatal hypophosphatasia associated with convulsions.
|
11999978 |
2002 |
|
Infantile hypophosphatasia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Glu274Lys/Gly309Arg mutation of the tissue-nonspecific alkaline phosphatase gene in neonatal hypophosphatasia associated with convulsions.
|
11999978 |
2002 |
|
Adult hypophosphatasia (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Denaturing gradient gel electrophoresis analysis of the tissue nonspecific alkaline phosphatase isoenzyme gene in hypophosphatasia.
|
11855933 |
2002 |
|
Adult hypophosphatasia (disorder)
|
|
0.700 |
GeneticVariation
|
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)
|
|
0.700 |
GeneticVariation
|
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)
|
|
0.700 |
GeneticVariation
|
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)
|
|
0.700 |
GeneticVariation
|
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 |
|
Infantile hypophosphatasia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Correlations of genotype and phenotype in hypophosphatasia.
|
10332035 |
1999 |
|
Adult hypophosphatasia (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Correlations of genotype and phenotype in hypophosphatasia.
|
10332035 |
1999 |
|
Adult hypophosphatasia (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A novel missense mutation of the tissue-nonspecific alkaline phosphatase gene detected in a patient with hypophosphatasia.
|
9747027 |
1998 |
|
Infantile hypophosphatasia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia.
|
9781036 |
1998 |
|
Adult hypophosphatasia (disorder)
|
|
0.700 |
GeneticVariation
|
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)
|
|
0.700 |
GeneticVariation
|
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)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Identification of novel missense mutations (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia.
|
8954059 |
1996 |
|
Adult hypophosphatasia (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A homoallelic Gly317-->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites.
|
8406453 |
1993 |
|
Adult hypophosphatasia (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia.
|
1409720 |
1992 |
|
Convulsions
|
|
0.010 |
GeneticVariation
|
BEFREE |
Glu274Lys/Gly309Arg mutation of the tissue-nonspecific alkaline phosphatase gene in neonatal hypophosphatasia associated with convulsions.
|
11999978 |
2002 |
|
Seizures
|
|
0.010 |
GeneticVariation
|
BEFREE |
Glu274Lys/Gly309Arg mutation of the tissue-nonspecific alkaline phosphatase gene in neonatal hypophosphatasia associated with convulsions.
|
11999978 |
2002 |