PMID: 15741992

Bombieri C, Bonizzato A, Castellani C, Assael BM, Pignatti PF
Frequency of large CFTR gene rearrangements in Italian CF patients.
Eur J Hum Genet. 2005 May;13(5):687-9., [PubMed]
Sentences
No. Mutations Sentence Comment
36 ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 15741992:36:111
status: NEW
view ABCC7 p.Gly542* details
ABCC7 p.Gln552*
X
ABCC7 p.Gln552* 15741992:36:121
status: NEW
view ABCC7 p.Gln552* details
 In all patients, the rearrangements are present in compound heterozygosity with a common CF mutation (F508del, G542X, or Q552X). Login to comment