ABCB11 p.Gly556Arg
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PMID: 20683201
[PubMed]
Matte U et al: "Analysis of gene mutations in children with cholestasis of undefined etiology."
No.
Sentence
Comment
96
ABCB11 c.3929delG/c.3929delG Newy /newy CUE-14 3 y 44 Canalicular cholestasis, portal-portal bridging fibrosis ABCB11 p.G556R (0%)/p.D1243G (0%) New, new CUE ¼ cholestasis of undefined etiology; GCT ¼ giant cell transformation; g-GTP ¼ gamma-glutamyl transpeptidase.
X
ABCB11 p.Gly556Arg 20683201:96:120
status: NEW