ABCMdb

PMID: 12551894

Zha X, Gauthier A, Genest J, McPherson R
Secretory vesicular transport from the Golgi is altered during ATP-binding cassette protein A1 (ABCA1)-mediated cholesterol efflux.
J Biol Chem. 2003 Mar 21;278(12):10002-5. Epub 2003 Jan 27., [PubMed]

Sentences

No. Mutations Sentence Comment

54 ABCA1 p.Cys1477Arg The Tangier patient is a compound heterozygote in which one allele gives the mutation C1477R and the other one is a Gly 3 Cys mutation at an exon/intron boundary, causing a splice site mutation and thus a truncated mRNA (5). Login to comment 55 ABCA1 p.Cys1477Arg The Tangier patient is a compound heterozygote in which one allele gives the mutation C1477R and the other one is a Gly 3 Cys mutation at an exon/intron boundary, causing a splice site mutation and thus a truncated mRNA (5). Login to comment