ABCC7 p.Trp1145Arg
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PMID: 17662673
[PubMed]
Alibakhshi R et al: "Analysis of the CFTR gene in Iranian cystic fibrosis patients: identification of eight novel mutations."
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Sentence
Comment
7
The CBAVD patient was found to be homozygous for the p.W1145R mutation.
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ABCC7 p.Trp1145Arg 17662673:7:55
status: NEW10 Eight mutations, c.406-8TNC, p.A566D, c.2576delA, c.2752-1_2756delGGTGGCinsTTG, p.T1036I, p.W1145R, c.3850-24GNA, c.1342-?_1524+?del, were found for the first time in this study.
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ABCC7 p.Trp1145Arg 17662673:10:92
status: NEW14 Keywords: Cystic fibrosis; CFTR; Mutations; Iran; Direct sequencing; c.2576delA; p.A566D; c.2752-1_2756delGGTGGCinsTTG; p.T1036I; p.W1145R; CFTRdele9; c.406-8TNC; c.3850-24GNA 1.
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ABCC7 p.Trp1145Arg 17662673:14:132
status: NEW116 The CBAVD patient, without pulmonary disease, was homozygous for the p.W1145R mutation.
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ABCC7 p.Trp1145Arg 17662673:116:71
status: NEW115 The CBAVD patient, without pulmonary disease, was homozygous for the p.W1145R mutation.
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ABCC7 p.Trp1145Arg 17662673:115:71
status: NEW