PMID: 12885340

Devaney J, Maher M, Smith T, Houghton JA, Glennon M
HFE alleles in an Irish cystic fibrosis population.
Genet Test. 2003 Summer;7(2):155-8., [PubMed]
Sentences
No. Mutations Sentence Comment
57 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 12885340:57:82
status: NEW
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ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 12885340:57:207
status: NEW
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ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 12885340:57:48
status: NEW
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ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 12885340:57:89
status: NEW
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ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 12885340:57:75
status: NEW
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ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 12885340:57:197
status: NEW
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ABCC7 p.Arg560Thr
X
ABCC7 p.Arg560Thr 12885340:57:107
status: NEW
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ABCC7 p.Arg560Lys
X
ABCC7 p.Arg560Lys 12885340:57:96
status: NEW
view ABCC7 p.Arg560Lys details
 Our non-DF508 CF patients were screened for the R117H, 1717-1G R A, DI507, G542X, G551D, R553X, R560K, and R560T CFTR mutations prior to inclusion in this study; it is interesting to note that the G542X and G551D alleles have positive and negative associations, respectively, with MI development (Schwarz et al., 1995; Feingold and Gailloud-Bataille, 1999). Login to comment