rs121908722
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Adenosine deaminase deficient severe combined immunodeficiency presenting as atypical haemolytic uraemic syndrome.
|
25875700 |
2015 |
rs121908722
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Immunologic reconstitution during PEG-ADA therapy in an unusual mosaic ADA deficient patient.
|
18952502 |
2009 |
rs121908722
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype.
|
8227344 |
1993 |
rs121908722
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles.
|
9758612 |
1998 |
rs121908722
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Severe combined immunodeficiency due to adenosine deaminase deficiency.
|
22764473 |
2012 |
rs121908722
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Four new adenosine deaminase mutations, altering a zinc-binding histidine, two conserved alanines, and a 5' splice site.
|
7599635 |
1995 |
rs121908722
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of a point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrelated children with partial ADA deficiency.
|
2783588 |
1989 |
rs121908722
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of a point mutation in the adenosine deaminase gene responsible for immunodeficiency.
|
3839802 |
1985 |
rs121908722
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutant human adenosine deaminase alleles and their expression by transfection into fibroblasts.
|
3182793 |
1988 |
rs121908722
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype.
|
8227344 |
1993 |
rs121908722
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Structure of adenosine deaminase mRNAs from normal and adenosine deaminase-deficient human cell lines.
|
6208479 |
1984 |
rs121908722
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
An adenosine deaminase (ADA) allele contains two newly identified deleterious mutations (Y97C and L106V) that interact to abolish enzyme activity.
|
9361033 |
1997 |
rs121908722
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined immunodeficiency: G74C, V129M, G140E, R149W, Q199P, 462delG, and E337del. Mutations in brief no. 142. Online.
|
10200056 |
1998 |
rs121908722
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Hot spot mutations in adenosine deaminase deficiency.
|
2166947 |
1990 |
rs121908722
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
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 |
rs121908722
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Homozygosity for a missense mutation (G20R) associated with neonatal onset adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID).
|
8299233 |
1994 |