PMID: 11866018

Spitzer E, Staab D, Hanke R, Wahn U, Grosse R
Identification of a new cystic fibrosis transmembrane regulator mutation in a severely affected patient.
Eur Respir J. 2002 Feb;19(2):374-6., [PubMed]
Sentences
No. Mutations Sentence Comment
31 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 11866018:31:123
status: NEW
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ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 11866018:31:140
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 11866018:31:151
status: NEW
view ABCC7 p.Asn1303Lys details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 11866018:31:116
status: NEW
view ABCC7 p.Gly542* details
 Discussion Studies carried out in southern European populations, including the former Yugoslavia, identified DF508, G542X, G551D, 621z1GwT, W1282X and N1303K as the most common CF mutations [6, 7]. Login to comment