ABCC7 p.Ile1383*
[switch to full view]Comments [show]
None has been submitted yet.
PMID: 10419506
[PubMed]
Haardt M et al: "C-terminal truncations destabilize the cystic fibrosis transmembrane conductance regulator without impairing its biogenesis. A novel class of mutation."
No.
Sentence
Comment
39
T70 CFTR (corresponding to Q1411X) and T98 CFTR (corresponding to I1383X) were engineered by polymerase chain reaction mutagenesis (sense primer, 5Ј-TGC AAG AAT GGC CAA CTC TCG CC-3Ј; antisense primers, 5Ј-A AAG GGC CCG CTA GCA TTC CAG CAT TGC TTC-3Ј and 5Ј-AAA GGG CCC CTA TTG GTA TGT TAC TGG ATC C-3Ј) by introducing a TAG stop codon flanked with an ApaI restriction site 3Ј to nucleotides 4362 and 4278, respectively.
X
ABCC7 p.Ile1383* 10419506:39:66
status: NEW