PMID: 21625641

Del Porto P, Cifani N, Guarnieri S, Di Domenico EG, Mariggio MA, Spadaro F, Guglietta S, Anile M, Venuta F, Quattrucci S, Ascenzioni F
Dysfunctional CFTR alters the bactericidal activity of human macrophages against Pseudomonas aeruginosa.
PLoS One. 2011;6(5):e19970. Epub 2011 May 18., [PubMed]
Sentences
No. Mutations Sentence Comment
56 ABCC7 p.Arg1162*
X
ABCC7 p.Arg1162* 21625641:56:192
status: NEW
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Patient Age Sex Genotype Microbiologya FEV1% CF1 25 M F508del/- none 98% CF2 34 F F508del/F508del S.a. 76% CF3 16 F F508del/F508del none 87% CF4 20 F F508del/F508del S.a. 49% CF5 24 F F508del/R1162X S.a,P.a. Login to comment
57 ABCC7 p.Leu732*
X
ABCC7 p.Leu732* 21625641:57:21
status: NEW
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63% CF6 34 F F508del/L732X C.a., S.a.,P.a. Login to comment
58 ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 21625641:58:61
status: NEW
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33% CF7 15 M F508del/F508del A.t., S.m. 39% CF8 22 M F508del/N1303K S.a., P.a. 39% CF9 23 M F508del/F508del P.a. 91% CF10 33 F F508del/F508del P.a.,P.f. Login to comment
59 ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 21625641:59:84
status: NEW
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ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 21625641:59:91
status: NEW
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49% CF11 27 F F508del/F508del P.a. 28% CF12 45 F F508del/F508del P.a. 44% CF13 30 M W1282X/W1282X P.a. 43% CF14 28 M F508del/F508del S.a. 66% CF15 36 F F508del/F508del S.a. 76% a S.a.: Staphylococcus aureus; P.a.: Pseudomonas aeruginosa; C.a.: Candida albicans; A.t.: Aspergillus terreus; S.m.: Stenotrophomonas maltophilia; P.f.: Pseudomonas fluorescens; - unknown; doi:10.1371/journal.pone.0019970.t001 antibody (Developmental Studies Hybridoma Bank, University of IOWA, IOWA City, IA) and the Alexa Fluor-488 F(ab)2 goat anti-mouse IgG. Login to comment