Crigler-Najjar syndrome type I in Tunisia may be associated with a founder effect related to the Q357R mutation within the UGT1 gene.
Francoual
Jeanne
J
Rivierre
Armelle
A
Mokrani
Chahnez
C
Khrouf
Naïma
N
Gottrand
Frédéric
F
Myara
Anne
A
Le Bihan
Béatrice
B
Capel
Liliane
L
Lindenbaum
Albert
A
Labrune
Philippe
P
D019943:Amino Acid Substitution / Q000235:genetics*; D001120:Arginine / Q000235:genetics*; D003414:Crigler-Najjar Syndrome / Q000453:epidemiology / Q000235:genetics*; D018703:Founder Effect; D005973:Glutamine / Q000235:genetics*; D006801:Humans; D009004:Monosaccharide Transport Proteins / Q000172:deficiency / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D014416:Tunisia / Q000453:epidemiology; D000099237:UDP-Galactose Translocators
D001120:Arginine; D005973:Glutamine; D009004:Monosaccharide Transport Proteins; D000099237:UDP-Galactose Translocators