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PMID: 11745042
Thompson R, Strautnieks S
BSEP: function and role in progressive familial intrahepatic cholestasis.
Semin Liver Dis. 2001 Nov;21(4):545-50.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
91
ABCB11 p.Asp482Gly
X
ABCB11 p.Asp482Gly 11745042:91:25
status:
NEW
view ABCB11 p.Asp482Gly details
ABCB11 p.Glu297Gly
X
ABCB11 p.Glu297Gly 11745042:91:15
status:
NEW
view ABCB11 p.Glu297Gly details
Two mutations,
E297G
and
D482G
, are "common" and have been found in 25 and 16 European families, respectively.
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