PMID: 10232317

Johnson DW, Parnham A, Herzig K, Wittmann J
Sunshine, sweating, and main d'accoucheur.
Lancet. 1999 May 1;353(9163):1492., [PubMed]
Sentences
No. Mutations Sentence Comment
16 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 10232317:16:120
status: NEW
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ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 10232317:16:121
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 10232317:16:178
status: NEW
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ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 10232317:16:179
status: NEW
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ABCC7 p.Ala455Glu
X
ABCC7 p.Ala455Glu 10232317:16:149
status: NEW
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ABCC7 p.Ala455Glu
X
ABCC7 p.Ala455Glu 10232317:16:150
status: NEW
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ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 10232317:16:127
status: NEW
view ABCC7 p.Arg553* details
ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 10232317:16:128
status: NEW
view ABCC7 p.Arg553* details
ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 10232317:16:141
status: NEW
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ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 10232317:16:142
status: NEW
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ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 10232317:16:134
status: NEW
view ABCC7 p.Gly542* details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 10232317:16:135
status: NEW
view ABCC7 p.Gly542* details
 Screening for ten of the common cystic fibrosis transmembrane conductance regulator gene (CFTR) mutations (⌬F508, G551D, R553X, G542X, N1303K, A455E, 621+1, Delta I507 and R117H), showed a single delta F508 mutation. Login to comment