PMID: 15057773

Rosmorduc O, Hermelin B, Boelle PY, Poupon RE, Poupon R, Chazouilleres O
ABCB4 gene mutations and primary sclerosing cholangitis.
Gastroenterology. 2004 Apr;126(4):1220-2; author reply 1222-3., [PubMed]
Sentences
No. Mutations Sentence Comment
55 ABCB4 p.Arg590Gln
X
ABCB4 p.Arg590Gln 15057773:55:61
status: NEW
view ABCB4 p.Arg590Gln details
 However, as this mutation affected nonconserved amino acids (Arg590Gln) between the human ABCB4 gene and its rodent homologs, it was not considered as a disease-causing mutation. Login to comment 57 ABCB4 p.Arg652Gly
X
ABCB4 p.Arg652Gly 15057773:57:25
status: NEW
view ABCB4 p.Arg652Gly details
 The previously described Arg652Gly polymorphism was detected with a similar frequency in all groups (about 6%). Login to comment