PMID: 15274098

Davis PB, Schluchter MD, Konstan MW
Relation of sweat chloride concentration to severity of lung disease in cystic fibrosis.
Pediatr Pulmonol. 2004 Sep;38(3):204-9., [PubMed]
Sentences
No. Mutations Sentence Comment
26 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 15274098:26:37
status: NEW
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ABCC7 p.Ala455Glu
X
ABCC7 p.Ala455Glu 15274098:26:8
status: NEW
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ABCC7 p.Arg334Trp
X
ABCC7 p.Arg334Trp 15274098:26:48
status: NEW
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ABCC7 p.Arg347His
X
ABCC7 p.Arg347His 15274098:26:59
status: NEW
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ABCC7 p.Asp1270Asn
X
ABCC7 p.Asp1270Asn 15274098:26:19
status: NEW
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ABCC7 p.Gly85Glu
X
ABCC7 p.Gly85Glu 15274098:26:27
status: NEW
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 T (12); A455E (1); D1270N; G85E (3); R117H (4); R334W (1); R347H (1); T347P (6); 2859 þ 5 G ! Login to comment 27 ABCC7 p.Pro574His
X
ABCC7 p.Pro574His 15274098:27:40
status: NEW
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ABCC7 p.Gly551Ser
X
ABCC7 p.Gly551Ser 15274098:27:22
status: NEW
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ABCC7 p.Pro205Ser
X
ABCC7 p.Pro205Ser 15274098:27:15
status: NEW
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ABCC7 p.Gly91Arg
X
ABCC7 p.Gly91Arg 15274098:27:3
status: NEW
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ABCC7 p.Tyr563Asn
X
ABCC7 p.Tyr563Asn 15274098:27:29
status: NEW
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ABCC7 p.Glu92Lys
X
ABCC7 p.Glu92Lys 15274098:27:9
status: NEW
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 T; G91R; E92K; P205S; G551S; Y563N; and P574H.23,24 Note that there are 36 mild alleles in 34 subjects, because two subjects had both the 3848 þ 10 kb C ! Login to comment 28 ABCC7 p.Arg347Pro
X
ABCC7 p.Arg347Pro 15274098:28:6
status: NEW
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 T and R347P alleles. Login to comment