PMID: 24149827

Ooi CY, Dupuis A, Ellis L, Jarvi K, Martin S, Ray PN, Steele L, Kortan P, Gonska T, Dorfman R, Solomon M, Zielenski J, Corey M, Tullis E, Durie P
Does extensive genotyping and nasal potential difference testing clarify the diagnosis of cystic fibrosis among patients with single-organ manifestations of cystic fibrosis?
Thorax. 2014 Mar;69(3):254-60. doi: 10.1136/thoraxjnl-2013-203832. Epub 2013 Oct 21., [PubMed]
Sentences
No. Mutations Sentence Comment
127 ABCC7 p.Asp1152His
X
ABCC7 p.Asp1152His 24149827:127:141
status: NEW
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ABCC7 p.Arg75*
X
ABCC7 p.Arg75* 24149827:127:149
status: NEW
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ABCC7 p.Gln1291His
X
ABCC7 p.Gln1291His 24149827:127:171
status: NEW
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ABCC7 p.Asp579Gly
X
ABCC7 p.Asp579Gly 24149827:127:230
status: NEW
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ABCC7 p.Asp579Gly
X
ABCC7 p.Asp579Gly 24149827:127:236
status: NEW
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ABCC7 p.Val456Ala
X
ABCC7 p.Val456Ala 24149827:127:154
status: NEW
view ABCC7 p.Val456Ala details
 ߤ14/24 (58%) were not identified with two CF-causing mutations: 12 carried one CF-causing mutation (DF508/-(x5); DF508/5 T (x3); DF508/D1152H; R75X/V456A; 1717-1G>A/Q1291H; 1717-1G>A/5 T) and two had no CF-causing mutation (D579G/D579G; -/-). Login to comment