1. 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 (January 2009)
DOI: /j.jcf
Copyright © 2008 European Cystic Fibrosis Society. Terms and Conditions

2. 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: ( /j.jcf )
Copyright © 2008 European Cystic Fibrosis Society. Terms and Conditions