|
rs72551351
|
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 |
|
rs72551351
|
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 |
|
rs72551351
|
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 |
|
rs72551351
|
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 |
|
rs72551351
|
UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3
|
Crigler Najjar syndrome, type 1
|
|
0.810 |
GeneticVariation |
BEFREE |
As we had previously shown that CN-I was, in Tunisia, associated with homozygosity for the Q357R mutation within the UGT1 gene, we were able to detect this mutation in both families and to show that it was easily recognized by single-strand conformation polymorphism (SSCP) analysis.
|
12378576 |
2002 |
|
rs72551351
|
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 |
|
rs72551351
|
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 |
|
rs72551351
|
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 |
|
rs72551351
|
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 |
|
rs72551351
|
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 |
|
rs72551351
|
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 |
|
rs72551351
|
UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3
|
Crigler Najjar syndrome, type 1
|
G |
0.810 |
CausalMutation |
CLINVAR |
|
|
|