ABCMdb

PMID: 1375156

Bremer S, Hoof T, Wilke M, Busche R, Scholte B, Riordan JR, Maass G, Tummler B
Quantitative expression patterns of multidrug-resistance P-glycoprotein (MDR1) and differentially spliced cystic-fibrosis transmembrane-conductance regulator mRNA transcripts in human epithelia.
Eur J Biochem. 1992 May 15;206(1):137-49., [PubMed]

Sentences

No. Mutations Sentence Comment

138 ABCC7 p.Gly551Asp ABCC7 p.Ala455Glu ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro ABCC7 p.Arg1162* After screening for the Phe508 deletion (Kerem et al., 1989), most CFTR mutations were investigated by restriction analysis of PCR products (R334W, R347P, A455E, G551D, R553X, R1162X, W1282X) (Cutting et al., 1990; Dean et al., 1990; Gasparini et al., 1991; Kerem et al., 1990; Vidaud et al., 1990). Login to comment 139 ABCC7 p.Arg117His ABCC7 p.Asn1303Lys ABCC7 p.Gly542* A few other mutations were analyzed either by allele-specific oligonucleotide hybridization (R117H, 1717-1G --f A) (Dean et al., 1990; Kerem et al., 1990) or by allele-specific PCR (G542X, N1303K) (Kerem et al., 1990; Osborne et al., 1991). Login to comment 257 ABCC7 p.Arg553* ABCC7 p.Arg347Pro The CF patients were either dF508 homozygotes (n = I) or were dF508 compound heterozygotes (n = 3) with R347P (Dean et al., 1990), R553X (Cutting et al., 1990)or a yet-unpublished frameshift mutation in CFTR as the second CF-causing mutation. Login to comment