Association of a homozygous (TA)8 promoter polymorphism and a N400D mutation of UGT1A1 in a child with Crigler-Najjar type II syndrome.
Labrune
Philippe
P
Myara
Anne
A
Chalas
Jacqueline
J
Le Bihan
Béatrice
B
Capel
Liliane
L
Francoual
Jeanne
J
D001483:Base Sequence; D002648:Child; D003414:Crigler-Najjar Syndrome / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D014453:Glucuronosyltransferase / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D017354:Point Mutation; D011110:Polymorphism, Genetic; D016385:TATA Box; D000099148:UGT1A1 Enzyme
D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme