Ontology highlight
ABSTRACT:
SUBMITTER: Lewis RA
PROVIDER: S-EPMC1377752 | biostudies-other | 1999 Feb
REPOSITORIES: biostudies-other
Lewis R A RA Shroyer N F NF Singh N N Allikmets R R Hutchinson A A Li Y Y Lupski J R JR Leppert M M Dean M M
American journal of human genetics 19990201 2
Mutation scanning and direct DNA sequencing of all 50 exons of ABCR were completed for 150 families segregating recessive Stargardt disease (STGD1). ABCR variations were identified in 173 (57%) disease chromosomes, the majority of which represent missense amino acid substitutions. These ABCR variants were not found in 220 unaffected control individuals (440 chromosomes) but do cosegregate with the disease in these families with STGD1, and many occur in conserved functional domains. Missense amin ...[more]