ABCA4 mutations and discordant ABCA4 alleles in patients and siblings with bull’s-eye maculopathy

Aim:To determine the frequency and nature of mutations in the gene ABCA4 in a cohort of patients with bull’s-eye maculopathy (BEM).Methods:A panel of 49 subjects (comprising 40 probands/families, 7 sibling pairs and a set of three sibs) with BEM, not attributable to toxic causes, was ascertained. Bl...

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Veröffentlicht in:	British journal of ophthalmology 2007-12, Vol.91 (12), p.1650-1655
Hauptverfasser:	Michaelides, M, Chen, L L, Brantley, M A, Andorf, J L, Isaak, E M, Jenkins, S A, Holder, G E, Bird, A C, Stone, E M, Webster, A R
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Aged Alanine Alleles ATP-Binding Cassette Transporters - genetics Biological and medical sciences Cohort Studies Deoxyribonucleic acid DNA Extended Report Families & family life Female Genes Glutamic Acid Glycine Humans Macula Lutea Male Medical sciences Middle Aged Miscellaneous Mutation Mutation, Missense Ophthalmology Patients Pedigree Phenotype Photoreceptors Proteins Retinal Diseases - genetics Retinopathies Siblings Valine
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