Ontology highlight
ABSTRACT:
SUBMITTER: Lichter-Konecki U
PROVIDER: S-EPMC1234925 | biostudies-literature | 2001 Jan
REPOSITORIES: biostudies-literature
American journal of human genetics 20001122 1
Autosomal dominant renal Fanconi syndrome is a genetic model for the study of proximal renal tubular transport pathology. We were able to map the locus for this disease to human chromosome 15q15.3 by genotyping a central Wisconsin pedigree with 10 affected individuals. After a whole-genome scan with highly polymorphic simple sequence repeat markers, a maximum LOD score of 3.01 was calculated for marker D15S659 on chromosome 15q15.3. Linkage and haplotype analysis for an additional 24 markers fla ...[more]