PMID: 10636451

Schaedel C, Hjelte L, de Monestrol I, Johannesson M, Kollberg H, Kornfalt R, Holmberg L
Three common CFTR mutations should be included in a neonatal screening programme for cystic fibrosis in Sweden.
Clin Genet. 1999 Oct;56(4):318-22., [PubMed]
Sentences
No. Mutations Sentence Comment
54 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 10636451:54:159
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 10636451:54:83
status: NEW
view ABCC7 p.Arg553* details
ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 10636451:54:105
status: NEW
view ABCC7 p.Arg553* details
ABCC7 p.Gly1244Glu
X
ABCC7 p.Gly1244Glu 10636451:54:76
status: NEW
view ABCC7 p.Gly1244Glu details
ABCC7 p.Ile148Thr
X
ABCC7 p.Ile148Thr 10636451:54:31
status: NEW
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ABCC7 p.Ser549Ile
X
ABCC7 p.Ser549Ile 10636451:54:11
status: NEW
view ABCC7 p.Ser549Ile details
ABCC7 p.Ser549Ile
X
ABCC7 p.Ser549Ile 10636451:54:17
status: NEW
view ABCC7 p.Ser549Ile details
 patients 1 S549I/S549I Lebanon I148T/unknown1 Turkey 1 711+3G“A/ Italy G1244E R553X/G551D1 France 2 R553X/unknown Sweden, Germany 175insT/175insT Sweden2 R117H/unknown2 Sweden 3 Unknown/unknown Sweden, Syria, Turkey early intervention (1, 3). Login to comment 74 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 10636451:74:30
status: NEW
view ABCC7 p.Arg117His details
 Two patients heterozygous for R117H were first diagnosed after an infertility investigation. Login to comment 75 ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 10636451:75:18
status: NEW
view ABCC7 p.Arg553* details
 In 3 patients the R553X mutation was found. Login to comment