ABCC7 p.Pro1072Leu
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PMID: 9921909
[PubMed]
Bombieri C et al: "Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease."
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Sentence
Comment
4
Four new mutations were identified: D651N, 2377C/T, E826K, and P1072L.
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ABCC7 p.Pro1072Leu 9921909:4:63
status: NEW63 Three novel mutations were first identified in this study: D651N, E826K, and P1072L.
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ABCC7 p.Pro1072Leu 9921909:63:77
status: NEW80 P1072L, a C to T transition was detected at nucleotide 3347 in exon 17b, which encodes part of the second transmembrane domain.
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ABCC7 p.Pro1072Leu 9921909:80:0
status: NEW88 of cases CFTR gene PolyTb status tested mutationa DBE 23 1 G576A-R668C/L997F 7/9 1 ∆F508/L997F 9/9 1 ∆F508/- 7/9 1 R1066C/- 5/7 1 3667ins4/- 5/7 1 R75Q/- 7/7 1 M1137V/- 7/7 1 -/- 5/5 3 -/- 5/7 10 -/- 7/7 2 -/- 7/9 CB 27 1 P111L/- 7/7 1 R117H/- 7/7 1 E585X/- 7/7 1 P1072L/- 7/7 1 -/- 5/7 15 -/- 7/7 6 -/- 7/9 1 -/- 9/9 E 25 1 R668C/- 7/7 6 -/- 5/7 16 -/- 7/7 6 -/- 7/9 S 8 1 E826K/- 7/7 1 ∆F508/- 7/9 1 4382delA/- 7/7 1 L997F/- 7/9 1 V754M/- 7/9 3 -/- 7/7 LC 26 1 I148T/- 5/7 1 D1270N-R74W 5/7 1 D651N/- 7/7 1 Y301C/- 7/7 1 -/- 5/7 16 -/- 7/7 5 -/- 7/9 TB 4 1 -/- 5/7 1 -/- 7/7 2 -/- 7/9 Pneumonia 5 4 -/- 7/7 1 -/- 5/7 Pnx 2 2 -/- 7/7 Controls 68 1 L997F/- 7/9 1 R31C/- 7/7 1 I506V/- 5/7 1 -/- 5/7 1 -/- 5/9 23 -/- 7/7 4 -/- 7/9 1 -/- 9/9 2 ?
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ABCC7 p.Pro1072Leu 9921909:88:278
status: NEW