PMID: 11104661

Mateu E, Calafell F, Lao O, Bonne-Tamir B, Kidd JR, Pakstis A, Kidd KK, Bertranpetit J
Worldwide genetic analysis of the CFTR region.
Am J Hum Genet. 2001 Jan;68(1):103-17. Epub 2000 Dec 4., [PubMed]
Sentences
No. Mutations Sentence Comment
23 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 11104661:23:42
status: NEW
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ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 11104661:23:53
status: NEW
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ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 11104661:23:34
status: NEW
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ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 11104661:23:27
status: NEW
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 Only four other mutations (G542X, N1303K, G551D, and W1282X) have overall allele frequencies among CF chromosomes 11% (Estivill et al. 1997). Login to comment 122 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 11104661:122:112
status: NEW
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ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 11104661:122:122
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 11104661:122:81
status: NEW
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ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 11104661:122:70
status: NEW
view ABCC7 p.Gly542* details
 Haplotype backgrounds for the major CF mutations are: 1-2, for DF508, G542X, and N1303K mutations, and 2-1, for G551D and W1282X mutations (Morral et al. 1996). Login to comment