PFIC2 and ethnicity-specific bile salt export pump (BSEP, ABCB11) mutations: where do we go from here?
Ananthanarayanan
Meenakshisundaram
M
Li
Yanfeng
Y
D000074020:ATP Binding Cassette Transporter, Subfamily B, Member 11; D018528:ATP-Binding Cassette Transporters / Q000235:genetics* / Q000378:metabolism; D017398:Alternative Splicing; D044466:Asian People / Q000235:genetics*; D002681:China / Q000453:epidemiology; D002780:Cholestasis, Intrahepatic / Q000208:ethnology / Q000235:genetics* / Q000378:metabolism / Q000473:pathology / Q000628:therapy; D018389:Codon, Nonsense; D005091:Exons; D020022:Genetic Predisposition to Disease; D006776:Hospitals, Pediatric; D006801:Humans; D007438:Introns; D008099:Liver / Q000378:metabolism* / Q000473:pathology; D009154:Mutation; D020125:Mutation, Missense; D010641:Phenotype; D005723:gamma-Glutamyltransferase / Q000172:deficiency
C093491:ABCB11 protein, human; D000074020:ATP Binding Cassette Transporter, Subfamily B, Member 11; D018528:ATP-Binding Cassette Transporters; D018389:Codon, Nonsense; D005723:gamma-Glutamyltransferase