PMID: 7509311

Kere J, Estivill X, Chillon M, Morral N, Nunes V, Norio R, Savilahti E, de la Chapelle A
Cystic fibrosis in a low-incidence population: two major mutations in Finland.
Hum Genet. 1994 Feb;93(2):162-6., [PubMed]
Sentences
No. Mutations Sentence Comment
29 ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 7509311:29:39
status: NEW
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 The haplotype associations of AF508 an G542X are similar to those found in other European populations (Casals et al 1992, 1993; Mortal et al. 1993). Login to comment 30 ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 7509311:30:0
status: NEW
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 G542X and 3732delA (Tsui et al. 1992) were each identified in one chromosome, and the remaining eight mutations were not identified. Login to comment 59 ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 7509311:59:616
status: NEW
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ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 7509311:59:2397
status: NEW
view ABCC7 p.Gly542* details
 Cystic fibrosis mutations and associated haplotypes in Finnish CF families CF PI/PS metD metH PT-3 XV2c CS7 KM19 MP6d-9 Mutations Microsatellites H-80 J3.11 chromo- MI/N TaqI TaqI BanII TaqI Hhal Pstl MspI IVS8/IVS 17TA/ PstI Mspl some IVS 17CA 1 pat PI, N l 1 1 1 2 2 2 394delTT 23/36/13 ND 2 l mat PI, N 1 2 1 l 2 2 2 394delTT 23/36/13 ND 1 2 pat PI, MI 1 2 1, 2 1 2 2 2 394delTT 23136/13 1, 2 1 2 mat PI, MI 1 1 1, 2 1 2 2 2 AF508 17/31/13 1, 2 1 3 pat PI, MI 1 1 2 l 1 l 1 Unknown 16/33/13 2 2 3 mat PI, MI 1 1 2 1 2 2 2 AF508 17/31/13 2 2 4 pat PI, N l 2 2 1 2 2 2 AF508 17/3 l/13 2 1 4 mat PI, N 1 1 2 1 2 2 2 G542X 23/33/13 1 1 5 pat PI, N 1 1 2 1 2 2 2 AF508 -/-/- 2 2 5 mat PI, N 1 1 2 1 2 2 2 AF508 -/-/- 2 2 6 pat PI, MI 1 2 1 1 2 2 2 AF508 23/31/13 2 2 6 mat PI, MI 1 1 l 1 2 2 2 394delTT 23/36/13 1 2 7 pat PI, N 1 1 2 1 1 1 1 Unknown 16/33/13 2 2 7 mat PI, N 1 2 2 1 2 2 2 394delTT 23/36/13 l 1 8 pat P1, N 1 2 1 1 2 2 2 394delTT 23/36/13 1 1 8 mat P1, N 1 2 1 1 2 2 2 394delTT 23/36/13 1 1 9 pat P1, MI 1 1 2 1 1 1 l Unknown 16/33/13 2 2 9 mat PI, MI I 2 1 1 2 2 2 394delTT 23/36/13 l 1 10 pat P1, N 1 1 1 1 2 1 2 Unknown 17/31/11 2 2 10 mat P1, N 1 1 2 1 2 2 2 AF508 17/31/13 2 1 i 1 pat PI, N 2 1 1 1 2 2 2 AF508 23/30/13 2 2 11 mat P1, N 1 1 2 1 2 2 2 AF508 17/31/13 2 1 12 pat PI, N 2 1 2 1 1, 2 1, 2 1, 2 AF508 17/32/13 2 2 12 mat PI, N 1 1 2 1 1, 2 1, 2 1, 2 Unknown 16/07/17 1 1 13 pat PI, N 1 1 2 l, 2 1, 2 l, 2 l, 2 AF508 23/31/13 2 2 13 mat PI, N 2 1 2 1, 2 l, 2 l, 2 1, 2 Unknown 16/35/13 2 2 14 pat PI, MI 1 2 1 1 2 2 2 394delTT 23/36/13 1 1 14 mat PI, MI 1 l 2 1 2 2 2 AF508 17/31/13 2 1 15 pat PS, N 1, 2 1, 2 2 1, 2 2 2 2 Unknown 15/07/17 2 15 mat PS, N 1, 2 1, 2 2 1, 2 2 2 2 AF508 17/07/13 2 1,2 1,2 16 pat PI, N 1 1 2 1 2 2 2 AF508 17/31/13 2 1 16 mat PI, N 1 1 1 1 2 2 2 AF508 17/31/13 2 1 17 pat PI, N 1 2 1 1 2 2 2 394delTT 23/36/13 1 1 17 mat PI, N 1 2 1 1 2 2 2 394delTT 23/36/13 1 1 18 pat PI, N 1 1 2 1 2 2 2 AF508 17/31/13 2 1 18 mat PI, N 1 1 2 1 2 2 2 AF508 17/31/13 2 1 19 pat PI, N ND ND 2 1, 2 2 2 2 394delTT 23/36/13 ND 19 mat PI, N ND ND 2 l, 2 1 l 2 Unknown 16/31/13 ND 1,2 1,2 20 pat PI, N ND 1 ND ND ND ND ND AF508 23/31/13 ND 2 20 mat PI, N ND l ND ND ND ND ND 3732delA 17/35/13 ND 2 pat, Paternal allele; mat, maternal allele; PUPS, pancreatic insufficiency/sufficiency; MI/N, meconium ileus/normal; ND, not determined 9 AF508 ~) 394delTT (~ G542X (~ Unknown, same Io C) Unknown, different haplotypes r IO | A D '* | Oo .g 9 Fig.2. Login to comment 82 ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 7509311:82:169
status: NEW
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 Am J Hum Genet 339:119-120 Casals T, Nunes V, Palacio A, Gimtnez J, Gaona A, Ib~fiez N, Morral N, Estivill X (1993) Cystic fibrosis in Spain: high frequency of mutation G542X in the Mediterranean coastal area. Login to comment