Simple non-radioactive detection of the CFTR mutation N1303K by artificial creation of a restriction site.

doi:10.1016/0890-8508(92)90065-6

Back to search

Article

Simple non-radioactive detection of the CFTR mutation N1303K by artificial creation of a restriction site.

Molecular and cellular probes - 1 Feb 1992

Bal J, Rininsland F, Osborne L, Reiss J

Abstract excerpt

N1303K is one of the most frequent non-delta F508 mutations causing cystic fibrosis in Central Europe. Since no restriction site is altered by this mutation and no other frequent mutations are known so far in exon 21, the detection requires a separate and laborious test. A mismatched primer was u...

Topics

Base Sequence
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Deoxyribonuclease HindIII
Humans
Membrane Proteins
Molecular Sequence Data
Mutation

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.