Large deletion in UGT1A1 gene encompassing the promoter and the exon 1 responsible for Crigler-Najjar type I syndrome.
Petit
François M
FM
Hébert
Marylise
M
Gajdos
Vincent
V
Capel
Liliane
L
M'Rad
Ridha
R
Labrune
Philippe
P
D001483:Base Sequence; D003414:Crigler-Najjar Syndrome / Q000145:classification / Q000201:enzymology / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D017353:Gene Deletion; D005819:Genetic Markers / Q000235:genetics; D014453:Glucuronosyltransferase / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011401:Promoter Regions, Genetic / Q000235:genetics*; D000099148:UGT1A1 Enzyme
D005819:Genetic Markers; D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme