PMID: 20226067

Bass LM, Patil D, Rao MS, Green RM, Whitington PF
Pancreatic adenocarcinoma in type 2 progressive familial intrahepatic cholestasis.
BMC Gastroenterol. 2010 Mar 13;10:30., [PubMed]
Sentences
No. Mutations Sentence Comment
17 ABCB11 p.Leu413Trp
X
ABCB11 p.Leu413Trp 20226067:17:110
status: NEW
view ABCB11 p.Leu413Trp details
 The mutation in her ABCB11 gene involves heterozygote missense mutations, one allelic mutation being 1238T>G (Leu413Trp) and the other 3724C>A (Gly1242Ile), as reported elsewhere [1]. Login to comment