Ontology highlight
ABSTRACT:
SUBMITTER: Econs MJ
PROVIDER: S-EPMC508467 | biostudies-other | 1997 Dec
REPOSITORIES: biostudies-other
Econs M J MJ McEnery P T PT Lennon F F Speer M C MC
The Journal of clinical investigation 19971201 11
Autosomal dominant hypophosphatemic rickets (ADHR) is an inherited disorder of isolated renal phosphate wasting, the pathogenesis of which is unknown. We performed a genome-wide linkage study in a large kindred to determine the chromosome location of the ADHR gene. Two-point LOD scores indicate that the gene is linked to the markers D12S314 [Z(theta) = 3.15 at theta = 0.0], vWf [Z(theta) = 5.32 at theta = 0.0], and CD4 [Z(theta) = 3.53 at theta = 0.0]. Moreover, multilocus analysis indicates tha ...[more]