ABCMdb

PMID: 11372548

Scholl HP, Langrova H, Weber BH, Zrenner E, Apfelstedt-Sylla E
Clinical electrophysiology of two rod pathways: normative values and clinical application.
Graefes Arch Clin Exp Ophthalmol. 2001 Feb;239(2):71-80., [PubMed]

Sentences

No. Mutations Sentence Comment

145 ABCA4 p.Gly863Ala ABCA4 p.Gln1412* The first, a G to C alteration at nucleotide position 2588 in exon 17, results in an amino acid substitution at codon 863 (G863A) and the second, a C to T transition at nucleotide position 4234 in exon 28, causes a premature stop codon at codon 1412 (Q1412X). Login to comment 164 ABCA4 p.Gly863Ala Molecular genetic analysis of the 50 exons of ABCA4 gene revealed two missense mutations, a G to C transversion at nucleotide 2588 resulting in an amino acid substitution at codon 863 (G863A) and, in exon 40, a G to A alteration at nucleotide 5653 resulting in an amino acid substitution at codon 1885 (E1885 K). Login to comment