ABCC7 p.Met152Arg
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PMID: 15084988
[PubMed]
Naruse S et al: "A finger sweat chloride test for the detection of a high-risk group of chronic pancreatitis."
No.
Sentence
Comment
51
The 9 CF-causing mutations (R75X, Q98R, M152R, R347H, L441P, L571S, D979A, H1085R, and T1086I) in Japa- nese20,25-28 were screened by SNP typing with Masscode System (Shimadzu, Kyoto, Japan).
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ABCC7 p.Met152Arg 15084988:51:40
status: NEW
PMID: 15121783
[PubMed]
Fujiki K et al: "Genetic evidence for CFTR dysfunction in Japanese: background for chronic pancreatitis."
No.
Sentence
Comment
219
The nine CF causing (R75X, Q98R, M152R, R347H, L441P, L571S, D979A, H1085R, and T1086I) and two non-CF causing (Q1352H and R1453W) mutations in Japanese6 22-24 were screened by SNP typing with a Masscode system (Shimadzu, Kyoto, Japan) and confirmed by sequence analysis in positive and equivocal cases.
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ABCC7 p.Met152Arg 15121783:219:33
status: NEW
PMID: 15357566
[PubMed]
Ngukam A et al: "A novel missense mutation A1081P in the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a Laotian patient with congenital bilateral absence of the vas deferens."
No.
Sentence
Comment
4
Only a few CFTR mutations have been identified in that population (L88X, M152R, K166E, F508del, 1742delAC, 1525-18G>A, 1540del10, L568X, 1898ϩ1G>T, 1898ϩ5G>T, G970D, 451-458del8, 3121-2A>G, H1085R).1-6 We report here a novel missense mutation in a Laotian patient with congenital bilateral absence of the vas deferens (CBAVD).
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ABCC7 p.Met152Arg 15357566:4:73
status: NEW
PMID: 19652440
[PubMed]
Izumikawa K et al: "Unique mutations of the cystic fibrosis transmembrane conductance regulator gene of three cases of cystic fibrosis in Nagasaki, Japan."
No.
Sentence
Comment
16
The other novel or rare mutations such as R347H, D 979A, 1724delAG, H1085R, M152R and 1540del10 have The Second Department of Internal Medicine, Nagasaki University School of Medicine, Nagasaki, Department of Respiratory Medicine, National Hospital Organization Minami-Kyushu National Hospital, Kagoshima, Department of Respiratory Medicine, National Hospital Organization Ureshino Medical Center, Ureshino, Department of Laboratory Medicine, Nagasaki University School of Medicine, Nagasaki and Department of Respiratory Medicine, Respiratory Center, Toranomon Hospital, Tokyo Received for publication January 20, 2009; Accepted for publication April 14, 2009 Correspondence to Dr. Koichi Izumikawa, koizumik@nagasaki-u.ac.jp Figure1.
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ABCC7 p.Met152Arg 19652440:16:76
status: NEW