Wilson disease as a cause of liver injury in cystic fibrosis Radana Kotalová, Milan Jirsa, Věra Vávrová, Slávka Vrábelová-Pouchlá, Milan Macek  Journal of Cystic Fibrosis  Volume 8, Issue 1, Pages 63-65 (January 2009) DOI: 10.1016/j.jcf.2008.09.003 Copyright © 2008 European Cystic Fibrosis Society. Terms and Conditions

Fig. 1 Mutations in CFTR, UGT1A1, and ATP7B. Homozygous mutations F508del in CFTR (A) and A(TA)7TAA in the UGT1A1 promoter (B) were found by fragment analysis. The homozygous variant −3279T>C in the UGT1A1 promoter was detected as a PCR-Hpy8I restriction-enzyme fragment length polymorphism (B). The heterozygous mutation c.2930C>T in ATP7B was detected by gene sequencing (C) and as a PCR-NlaIII restriction-enzyme fragment length polymorphism (not shown). WT — wildtype, (TA)7 — A(TA)7TAA. Journal of Cystic Fibrosis 2009 8, 63-65DOI: (10.1016/j.jcf.2008.09.003) Copyright © 2008 European Cystic Fibrosis Society. Terms and Conditions