PMID: 17573513

Kaza V, Katz MF, Cumming S, Frost AE, Safdar Z
Correlation of chest radiograph pattern with genotype, age, and gender in adult cystic fibrosis: a single-center study.
Chest. 2007 Aug;132(2):569-74. Epub 2007 Jun 15., [PubMed]
Sentences
No. Mutations Sentence Comment
54 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 17573513:54:185
status: NEW
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 Eighteen of the heterozygous group were ⌬F508 heterozygotes with another described mutation of the CFTR gene; 11 patients were heterozygous with one allele (10 ⌬F508; one G551D) identified at the time of genotype testing, with the other allele remained unidentified. Login to comment 62 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 17573513:62:112
status: NEW
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ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 17573513:62:251
status: NEW
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ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 17573513:62:86
status: NEW
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ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 17573513:62:46
status: NEW
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ABCC7 p.Gly85Glu
X
ABCC7 p.Gly85Glu 17573513:62:100
status: NEW
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ABCC7 p.Pro67Leu
X
ABCC7 p.Pro67Leu 17573513:62:208
status: NEW
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 Homozygous ⌬F508 38 F508/no ID 10 F508/G542X 4 F508/n3849 ϩ 10KBT 2 F508/N1303K 2 F508/G85E 2 F508/G551D 2 F508/R1179H 1 F508/3849 ϩ 10 KBC.T 1 F508/621ϩIG-T 1 F508/3659deltaC 1 F508/P67L 1 F508/2789 ϩ 5E 1 G551/LL48T 1 G551D/no ID 1 Total 68 570 our adult CF population was UL predominance; 26% of those homozygous for ⌬F508 (group I) and 30% of the other genotypes (group II) had the radiologic appearance of UL disease (Fig 2). Login to comment