PMID: 12001283

Schaedel C, de Monestrol I, Hjelte L, Johannesson M, Kornfalt R, Lindblad A, Strandvik B, Wahlgren L, Holmberg L
Predictors of deterioration of lung function in cystic fibrosis.
Pediatr Pulmonol. 2002 Jun;33(6):483-91., [PubMed]
Sentences
No. Mutations Sentence Comment
88 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 12001283:88:301
status: NEW
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ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 12001283:88:279
status: NEW
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ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 12001283:88:312
status: NEW
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ABCC7 p.Thr338Ile
X
ABCC7 p.Thr338Ile 12001283:88:290
status: NEW
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ABCC7 p.Ser945Leu
X
ABCC7 p.Ser945Leu 12001283:88:259
status: NEW
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ABCC7 p.Arg117Cys
X
ABCC7 p.Arg117Cys 12001283:88:269
status: NEW
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ABCC7 p.Ile506Leu
X
ABCC7 p.Ile506Leu 12001283:88:323
status: NEW
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Furthermore, the inferred values for FEV1 and VC at age 5 years (the intercepts) were significantly lower TABLE 1- Allele Frequencies of 10 Most Common CFTR Mutations in Swedish CF Population Mutation Allele frequency (%) DF508 67.9 394delTT 7.1 3659delC 6.4 S945L 1.2 R117C 1.0 R117H 0.55 T338I 0.55 G551D 0.55 R553X 0.55 I506L 0.41 compared with those in the other CF patients (63.4% and 68.2% vs. 89% and 93.3%). Login to comment
121 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 12001283:121:141
status: NEW
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ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 12001283:121:143
status: NEW
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ABCC7 p.Ala455Glu
X
ABCC7 p.Ala455Glu 12001283:121:201
status: NEW
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ABCC7 p.Ala455Glu
X
ABCC7 p.Ala455Glu 12001283:121:203
status: NEW
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ABCC7 p.Gly1244Glu
X
ABCC7 p.Gly1244Glu 12001283:121:147
status: NEW
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ABCC7 p.Gly1244Glu
X
ABCC7 p.Gly1244Glu 12001283:121:149
status: NEW
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ABCC7 p.Leu206Trp
X
ABCC7 p.Leu206Trp 12001283:121:154
status: NEW
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ABCC7 p.Leu206Trp
X
ABCC7 p.Leu206Trp 12001283:121:156
status: NEW
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ABCC7 p.Arg75Gln
X
ABCC7 p.Arg75Gln 12001283:121:136
status: NEW
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ABCC7 p.Arg75Gln
X
ABCC7 p.Arg75Gln 12001283:121:138
status: NEW
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ABCC7 p.Thr338Ile
X
ABCC7 p.Thr338Ile 12001283:121:177
status: NEW
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ABCC7 p.Thr338Ile
X
ABCC7 p.Thr338Ile 12001283:121:179
status: NEW
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ABCC7 p.Ser549Ile
X
ABCC7 p.Ser549Ile 12001283:121:92
status: NEW
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ABCC7 p.Ser549Ile
X
ABCC7 p.Ser549Ile 12001283:121:94
status: NEW
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ABCC7 p.Ser549Ile
X
ABCC7 p.Ser549Ile 12001283:121:98
status: NEW
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ABCC7 p.Ser549Ile
X
ABCC7 p.Ser549Ile 12001283:121:100
status: NEW
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ABCC7 p.Ser945Leu
X
ABCC7 p.Ser945Leu 12001283:121:110
status: NEW
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ABCC7 p.Ser945Leu
X
ABCC7 p.Ser945Leu 12001283:121:112
status: NEW
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ABCC7 p.Arg117Cys
X
ABCC7 p.Arg117Cys 12001283:121:116
status: NEW
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ABCC7 p.Arg117Cys
X
ABCC7 p.Arg117Cys 12001283:121:118
status: NEW
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ABCC7 p.Tyr109Cys
X
ABCC7 p.Tyr109Cys 12001283:121:86
status: NEW
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ABCC7 p.Tyr109Cys
X
ABCC7 p.Tyr109Cys 12001283:121:88
status: NEW
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ABCC7 p.Asn1088Asp
X
ABCC7 p.Asn1088Asp 12001283:121:122
status: NEW
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ABCC7 p.Asn1088Asp
X
ABCC7 p.Asn1088Asp 12001283:121:124
status: NEW
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ABCC7 p.Tyr109Asn
X
ABCC7 p.Tyr109Asn 12001283:121:104
status: NEW
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ABCC7 p.Tyr109Asn
X
ABCC7 p.Tyr109Asn 12001283:121:106
status: NEW
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TABLE 3CFTR Mutations Associated With Pancreatic Sufficiency in Swedish CF Population Y109C S549I/S549I Y109N S945L R117C N1088D À R75Q R117H G1244E L206W 711 þ 3A !G T338I 1249 À 5A !G A455E 2789 þ 5G ! Login to comment
122 ABCC7 p.Ile506Leu
X
ABCC7 p.Ile506Leu 12001283:122:2
status: NEW
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A I506L 5T Except for the group of patients who had died or had been lung-transplanted, no significant differences in deterioration of VC were found between the various subgroups (data not shown). Login to comment