ABCMdb

PMID: 9425230

Braiterman LT, Zheng S, Watkins PA, Geraghty MT, Johnson G, McGuinness MC, Moser AB, Smith KD
Suppression of peroxisomal membrane protein defects by peroxisomal ATP binding cassette (ABC) proteins.
Hum Mol Genet. 1998 Feb;7(2):239-47., [PubMed]

Sentences

No. Mutations Sentence Comment

183 ABCD1 p.Arg617His ABCD1 p.Arg591Gln Mutant ALDP cDNAs were generated by TA cloning (Invitrogen) of RT-PCR products generated from RNA isolated from patient fibroblast cell lines harboring either the R617H mutation that both destablizes and inactivates ALDP or the missense mutation R591Q that inactivates ALDP without altering stability of the protein (5). Login to comment 184 ABCD1 p.Arg617His ABCD1 p.Arg591Gln Mutant ALDP cDNAs were generated by TA cloning (Invitrogen) of RT-PCR products generated from RNA isolated from patient fibroblast cell lines harboring either the R617H mutation that both destablizes and inactivates ALDP or the missense mutation R591Q that inactivates ALDP without altering stability of the protein (5). Login to comment 185 ABCD1 p.Arg617His ABCD1 p.Arg591Gln Mutant ALDP cDNAs were generated by TA cloning (Invitrogen) of RT-PCR products generated from RNA isolated from patient fibroblast cell lines harboring either the R617H mutation that both destablizes and inactivates ALDP or the missense mutation R591Q that inactivates ALDP without altering stability of the protein (5). Login to comment