×
Entrez Id:
11142
Gene Symbol:
PKIG
PKIG
0.100
GeneticVariation
disease
CLINVAR
A high proportion of ADA point mutations associated with a specific alanine-to-valine substitution.
2773932
1989
×
Entrez Id:
11142
Gene Symbol:
PKIG
PKIG
0.100
CausalMutation
disease
CLINVAR
A high proportion of ADA point mutations associated with a specific alanine-to-valine substitution.
2773932
1989
×
Entrez Id:
11142
Gene Symbol:
PKIG
PKIG
0.100
CausalMutation
disease
CLINVAR
Adenosine deaminase deficiency in adults.
9108404
1997
×
Entrez Id:
11142
Gene Symbol:
PKIG
PKIG
0.100
CausalMutation
disease
CLINVAR
Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles.
9758612
1998
×
Entrez Id:
11142
Gene Symbol:
PKIG
PKIG
0.100
GeneticVariation
disease
CLINVAR
Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles.
9758612
1998
×
Entrez Id:
11142
Gene Symbol:
PKIG
PKIG
0.100
GeneticVariation
disease
CLINVAR
Adenosine deaminase deficiency: molecular basis and recent developments.
7554472
1995
×
Entrez Id:
11142
Gene Symbol:
PKIG
PKIG
0.100
GeneticVariation
disease
CLINVAR
Adult onset immunodeficiency caused by inherited adenosine deaminase deficiency.
8051429
1994
×
Entrez Id:
11142
Gene Symbol:
PKIG
PKIG
0.100
GeneticVariation
disease
CLINVAR
An adenosine deaminase (ADA) allele contains two newly identified deleterious mutations (Y97C and L106V) that interact to abolish enzyme activity.
9361033
1997
×
Entrez Id:
11142
Gene Symbol:
PKIG
PKIG
0.100
GeneticVariation
disease
CLINVAR
Brief report: hepatic dysfunction as a complication of adenosine deaminase deficiency.
8614422
1996
×
Entrez Id:
11142
Gene Symbol:
PKIG
PKIG
0.100
GeneticVariation
disease
CLINVAR
Clinical, Laboratory, and Molecular Findings for 63 Patients With Severe Combined Immunodeficiency: A Decade´s Experience.
28266921
2019
×
Entrez Id:
11142
Gene Symbol:
PKIG
PKIG
0.100
CausalMutation
disease
CLINVAR
Combined immunodeficiencies: twenty years experience from a single center in Turkey.
27095930
2016
×
Entrez Id:
11142
Gene Symbol:
PKIG
PKIG
0.100
GeneticVariation
disease
CLINVAR
Determination of adenosine deaminase activity in dried blood spots by a nonradiochemical assay using reversed-phase high-performance liquid chromatography.
20544538
2010
×
Entrez Id:
11142
Gene Symbol:
PKIG
PKIG
0.100
GeneticVariation
disease
CLINVAR
Diagnosis, Treatment and Long-Term Follow Up of Patients with ADA Deficiency: a Single-Center Experience.
26376800
2015
×
Entrez Id:
11142
Gene Symbol:
PKIG
PKIG
0.100
CausalMutation
disease
CLINVAR
Diagnosis, Treatment and Long-Term Follow Up of Patients with ADA Deficiency: a Single-Center Experience.
26376800
2015
×
Entrez Id:
11142
Gene Symbol:
PKIG
PKIG
0.100
GeneticVariation
disease
CLINVAR
Five missense mutations at the adenosine deaminase locus (ADA) detected by altered restriction fragments and their frequency in ADA--patients with severe combined immunodeficiency (ADA-SCID).
1346349
1992
×
Entrez Id:
11142
Gene Symbol:
PKIG
PKIG
0.100
CausalMutation
disease
CLINVAR
Five missense mutations at the adenosine deaminase locus (ADA) detected by altered restriction fragments and their frequency in ADA--patients with severe combined immunodeficiency (ADA-SCID).
1346349
1992
×
Entrez Id:
11142
Gene Symbol:
PKIG
PKIG
0.100
GeneticVariation
disease
CLINVAR
Gene therapy for immunodeficiency due to adenosine deaminase deficiency.
19179314
2009
×
Entrez Id:
11142
Gene Symbol:
PKIG
PKIG
0.100
GeneticVariation
disease
CLINVAR
Genotype is an important determinant of phenotype in adenosine deaminase deficiency.
14499267
2003
×
Entrez Id:
11142
Gene Symbol:
PKIG
PKIG
0.100
CausalMutation
disease
CLINVAR
Homozygosity for a newly identified missense mutation in a patient with very severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID).
1680289
1991
×
Entrez Id:
11142
Gene Symbol:
PKIG
PKIG
0.100
GeneticVariation
disease
CLINVAR
Hot spot mutations in adenosine deaminase deficiency.
2166947
1990
×
Entrez Id:
11142
Gene Symbol:
PKIG
PKIG
0.100
CausalMutation
disease
CLINVAR
Identification of two new missense mutations (R156C and S291L) in two ADA- SCID patients unusual for response to therapy with partial exchange transfusions.
1284479
1992
×
Entrez Id:
11142
Gene Symbol:
PKIG
PKIG
0.100
GeneticVariation
disease
CLINVAR
Identification of two new missense mutations (R156C and S291L) in two ADA- SCID patients unusual for response to therapy with partial exchange transfusions.
1284479
1992
×
Entrez Id:
11142
Gene Symbol:
PKIG
PKIG
0.100
GeneticVariation
disease
CLINVAR
Molecular basis for paradoxical carriers of adenosine deaminase (ADA) deficiency that show extremely low levels of ADA activity in peripheral blood cells without immunodeficiency.
11160213
2001
×
Entrez Id:
11142
Gene Symbol:
PKIG
PKIG
0.100
GeneticVariation
disease
CLINVAR
Mutant human adenosine deaminase alleles and their expression by transfection into fibroblasts.
3182793
1988
×
Entrez Id:
11142
Gene Symbol:
PKIG
PKIG
0.100
CausalMutation
disease
CLINVAR
Mutations in the human adenosine deaminase gene that affect protein structure and RNA splicing.
3475710
1987