ABCMdb

PMID: 21766090

Beausejour Y, Alvarez F, Beaulieu M, Bilodeau M
Description of two new ABCB11 mutations responsible for type 2 benign recurrent intrahepatic cholestasis in a French-Canadian family.
Can J Gastroenterol. 2011 Jun;25(6):311-4., [PubMed]

Sentences

No. Mutations Sentence Comment

65 ABCB11 p.Ala277Glu A splice mutation (390 G࢐T [G130G]) was found on one allele, while a missense sequence variant (830 C࢐A [A277E]) was found on the other allele. Login to comment 66 ABCB11 p.Ala277Glu A splice mutation (390 G→T [G130G]) was found on one allele, while a missense sequence variant (830 C→A [A277E]) was found on the other allele. Login to comment 77 ABCB11 p.Ala277Glu The mother was found to have the 390 G࢐T (G130G) mutation, while the father harboured the 830 C࢐A (A277E) mutation. Login to comment 78 ABCB11 p.Ala277Glu The mother was found to have the 390 G→T (G130G) mutation, while the father harboured the 830 C→A (A277E) mutation. Login to comment 86 ABCB11 p.Asp482Gly ABCB11 p.Glu297Gly Among the two most common mutations in individuals of European descent are the E297G and D482G mutations, which collectively account for approximately 58% of all cases (9). Login to comment 87 ABCB11 p.Asp482Gly ABCB11 p.Glu297Gly Among the two most common mutations in individuals of European descent are the E297G and D482G mutations, which collectively account for approximately 58% of all cases (9). Login to comment