PMID: 24621136

Caldrer S, Verze G, Johansson J, Sorio C, Angiari C, Buffelli M, Assael BM, Melotti P
Challenging the diagnosis of cystic fibrosis in a patient carrying the 186-8T/C allelic variant in the CF transmembrane conductance regulator gene.
BMC Pulm Med. 2014 Mar 13;14:44. doi: 10.1186/1471-2466-14-44., [PubMed]
Sentences
No. Mutations Sentence Comment
56 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 24621136:56:198
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Asp1152His
X
ABCC7 p.Asp1152His 24621136:56:187
status: NEW
view ABCC7 p.Asp1152His details
 It is known that Normal and borderline sweat tests were obtained in CF patients in the presence of specific CFTR genotypes: the most representative includes mutations 3849 + 10 kb C > T, D1152H and R117H [12,13]. Login to comment