PMID: 16914886

Ikeda M, Fong P, Cheng J, Boletta A, Qian F, Zhang XM, Cai H, Germino GG, Guggino WB
A regulatory role of polycystin-1 on cystic fibrosis transmembrane conductance regulator plasma membrane expression.
Cell Physiol Biochem. 2006;18(1-3):9-20. Epub 2006 Aug 14., [PubMed]
Sentences
No. Mutations Sentence Comment
201 ABCC7 p.Glu60*
X
ABCC7 p.Glu60* 16914886:201:251
status: NEW
view ABCC7 p.Glu60* details
 Compared to those without CF, O`Sullivan et al [21] have reported a less severe cystic phenotype for two patients affected by both ADPKD (without description of exact genotype) and CF (stop codon within exon3 and severe reduction in transcription for E60X). Login to comment