R Riveiro-Alvarez D Valverde I Lorda-Sanchez M J Trujillo-Tiebas D Cantalapiedra E Vallespin J Aguirre-Lamban C Ramos C Ayuso
Mol Vis
2007 Jan 26;13:96-101.
CC BY
https://pubmed.ncbi.nlm.nih.gov/17277736/
ATP-Binding Cassette Transporters / genetics Chromosomes, Human, Pair 1 Fathers Macular Degeneration / genetics Mutation Uniparental Disomy
ATP-Binding Cassette Transporters / genetics Chromosomes, Human, Pair 1 Fathers Macular Degeneration / genetics Mutation Uniparental Disomy Case Reports Research Support, Non-U.S. Gov't Adult Alleles Arginine Cytogenetic Analysis Female Gene Dosage Haplotypes Heterozygote Humans Karyotyping Leucine Macular Degeneration / physiopathology Male Microsatellite Repeats ABCA4 protein, human ATP-Binding Cassette Transporters Arginine Leucine
PMC2553007
17277736
Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease
2007