ABCMdb

PMID: 15828773

Chen Y, Shortreed MR, Olivier M, Smith LM
Parallel single nucleotide polymorphism genotyping by surface invasive cleavage with universal detection.
Anal Chem. 2005 Apr 15;77(8):2400-5., 2005-04-15 [PubMed]

Sentences

No. Mutations Sentence Comment

170 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Arg334Trp ABCC7 p.Asn1303Lys ABCC7 p.Ile148Thr ABCC7 p.Val520Phe ABCC7 p.Arg560Thr 508 of the protein product.23 The CF mutations chosen in this study, ∆F508, G551D, W1282X, N1303K, R117H, R560T, 3849+10kbCT, V520F, R334W, and I148T, are a subset of the standard panel. Login to comment 174 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Val520Phe Among the six unrelated CF carriers, one was found to be homozygous for 3849+10kbCT, one homozygous for ∆F508, one heterozygous for both R117H and ∆F508, one heterozygous for W1282X/WT, one heterozygous for V520F/WT, and one heterozygous for G551D/WT. Login to comment