PMID: 11934265

Knorre A, Wagner M, Schaefer HE, Colledge WH, Pahl HL
DeltaF508-CFTR causes constitutive NF-kappaB activation through an ER-overload response in cystic fibrosis lungs.
Biol Chem. 2002 Feb;383(2):271-82., [PubMed]
Sentences
No. Mutations Sentence Comment
193 ABCC7 p.Arg347Pro
X
ABCC7 p.Arg347Pro 11934265:193:158
status: NEW
view ABCC7 p.Arg347Pro details
 Of the three CF patients examined by immunohistochemistry, two patients were homozygous for ∆F508-CFTR, one patient was heterozygous ∆F508-CFTR/R347P-CFTR. Login to comment