rs62625011
|
UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3
|
Crigler Najjar syndrome, type 1
|
|
0.810 |
GeneticVariation |
UNIPROT |
UGT1A1 gene mutations in Pakistani children suffering from inherited nonhemolytic unconjugated hyperbilirubinemias.
|
23992562 |
2013 |
rs62625011
|
UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3
|
Crigler Najjar syndrome, type 1
|
|
0.810 |
GeneticVariation |
UNIPROT |
Crigler-Najjar syndrome in The Netherlands: identification of four novel UGT1A1 alleles, genotype-phenotype correlation, and functional analysis of 10 missense mutants.
|
19830808 |
2010 |
rs62625011
|
UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3
|
Crigler Najjar syndrome, type 1
|
|
0.810 |
GeneticVariation |
UNIPROT |
Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia.
|
17229650 |
2007 |
rs62625011
|
UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3
|
Crigler Najjar syndrome, type 1
|
|
0.810 |
GeneticVariation |
BEFREE |
Prenatal diagnosis in a family with a boy previously diagnosed as Crigler-Najjar syndrome type I and homozygosity for the c.923G>A mutation revealed that the fetus was unaffected.
|
16269258 |
2006 |
rs62625011
|
UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3
|
Crigler Najjar syndrome, type 1
|
|
0.810 |
GeneticVariation |
UNIPROT |
Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation.
|
15712364 |
2005 |
rs62625011
|
UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3
|
Crigler Najjar syndrome, type 1
|
|
0.810 |
GeneticVariation |
UNIPROT |
Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype.
|
11013440 |
2000 |
rs62625011
|
UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3
|
Crigler Najjar syndrome, type 1
|
|
0.810 |
GeneticVariation |
UNIPROT |
Identification of two single base substitutions in the UGT1 gene locus which abolish bilirubin uridine diphosphate glucuronosyltransferase activity in vitro.
|
7906695 |
1994 |
rs62625011
|
UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3
|
Crigler Najjar syndrome, type 1
|
|
0.810 |
GeneticVariation |
UNIPROT |
Here, we report eleven mutations (including nine novel mutations) of the B-UGT1 gene in a large series of 14 unrelated CN-I children of various geographic origins: France (seven patients: A401P, Q357X, W335X, A368T, 1223insG, A291V, K426E, K437X); Portugal (two patients: G308E); Tunisia (two patients; Q357R); Turkey (one patient: S381R); italy (two siblings: S381R).
|
7989045 |
1994 |
rs62625011
|
UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3
|
Crigler Najjar syndrome, type 1
|
|
0.810 |
GeneticVariation |
UNIPROT |
Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase.
|
7989595 |
1994 |
rs62625011
|
UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3
|
Crigler Najjar syndrome, type 1
|
|
0.810 |
GeneticVariation |
UNIPROT |
A phenylalanine codon deletion at the UGT1 gene complex locus of a Crigler-Najjar type I patient generates a pH-sensitive bilirubin UDP-glucuronosyltransferase.
|
8226884 |
1993 |
rs62625011
|
UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3
|
Crigler Najjar syndrome, type 1
|
|
0.810 |
GeneticVariation |
UNIPROT |
Mechanisms of inherited deficiencies of multiple UDP-glucuronosyltransferase isoforms in two patients with Crigler-Najjar syndrome, type I.
|
1634050 |
1992 |
rs62625011
|
UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3
|
Crigler Najjar syndrome, type 1
|
A |
0.810 |
CausalMutation |
CLINVAR |
|
|
|