Ontology highlight
ABSTRACT:
SUBMITTER: Anderson KL
PROVIDER: S-EPMC1801408 | biostudies-other | 1995 Dec
REPOSITORIES: biostudies-other
Anderson K L KL Baird L L Lewis R A RA Chinault A C AC Otterud B B Leppert M M Lupski J R JR
American journal of human genetics 19951201 6
Stargardt disease (STGD) and fundus flavimaculatus are infrequent autosomal recessive conditions characterized by a juvenile macular dystrophy and variable degrees of peripheral retinal changes. Linkage analysis performed in 47 STGD/fundus flavimaculatus families demonstrated significant linkage to 13 polymorphic DNA markers on chromosome 1p. The maximum combined two-point lod score was 32.7 (maximum recombination fraction [phi max] = .006) with the polymorphic marker D1S188. Our data demonstrat ...[more]