PMID: 20847077

Simmonds NJ, D'Souza L, Roughton M, Alton EW, Davies JC, Hodson ME
Cystic fibrosis and survival to 40 years: a study of cystic fibrosis transmembrane conductance regulator function.
Eur Respir J. 2011 May;37(5):1076-82. Epub 2010 Sep 16., [PubMed]
Sentences
No. Mutations Sentence Comment
57 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 20847077:57:109
status: NEW
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ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 20847077:57:136
status: NEW
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ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 20847077:57:123
status: NEW
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ABCC7 p.Arg1162*
X
ABCC7 p.Arg1162* 20847077:57:183
status: NEW
view ABCC7 p.Arg1162* details
 76 (80.9%) patients were homozygous DF508 and the remainder were DF508 compound heterozygotes (with genotype G551D (n55), G542X (n53), N1303K (n53), 1717-1GRA (n52), 621-1GRT (n51), R1162X (n51), 2789+3delG (n51), 3659delC (n51) and D1507 (n51)); no significant difference between the groups for any genotype was present. Login to comment 89 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 20847077:89:48
status: NEW
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 # : genotypes confirmed as DF508/DF508 and F508/G551D. Login to comment