PMID: 22089923

Chong CP, Mills PB, McClean P, Gissen P, Bruce C, Stahlschmidt J, Knisely AS, Clayton PT
Bile acid-CoA ligase deficiency--a new inborn error of bile acid metabolism.
J Inherit Metab Dis. 2012 May;35(3):521-30. Epub 2011 Nov 17., [PubMed]
Sentences
No. Mutations Sentence Comment
8 ABCB11 p.Asn591Ser
X
ABCB11 p.Asn591Ser 22089923:8:131
status: NEW
view ABCB11 p.Asn591Ser details
 She also was homozygous for the missense mutation c.1772A>G in ABCB11, predicted to alter a highly conserved amino-acid residue (p.N591S) in bile salt export pump (BSEP). Login to comment 103 ABCB11 p.Asn591Ser
X
ABCB11 p.Asn591Ser 22089923:103:66
status: NEW
view ABCB11 p.Asn591Ser details
 She was, however, homozygous for the sequence change c.1772A>G (p.N591S) in ABCB11. This has been described in the heterozygous state in one patient with intrahepatic cholestasis of pregnancy and is assessed as probably pathogenic (Pauli-Magnus et al. 2004). Login to comment 107 ABCB11 p.Asn591Ser
X
ABCB11 p.Asn591Ser 22089923:107:114
status: NEW
view ABCB11 p.Asn591Ser details
 The sister proved homozygous for the c.1012>T (p.H338Y) mutation in SLC27A5 and heterozygous for the c.1772A>G (p.N591S) sequence change in ABCB11. Login to comment