Ontology highlight
ABSTRACT:
SUBMITTER: Fyfe JC
PROVIDER: S-EPMC1557767 | biostudies-literature | 2006 Sep
REPOSITORIES: biostudies-literature
Fyfe John C JC Menotti-Raymond Marilyn M David Victor A VA Brichta Lars L Schäffer Alejandro A AA Agarwala Richa R Murphy William J WJ Wedemeyer William J WJ Gregory Brittany L BL Buzzell Bethany G BG Drummond Meghan C MC Wirth Brunhilde B O'Brien Stephen J SJ
Genome research 20060809 9
The leading genetic cause of infant mortality is spinal muscular atrophy (SMA), a clinically and genetically heterogeneous group of disorders. Previously we described a domestic cat model of autosomal recessive, juvenile-onset SMA similar to human SMA type III. Here we report results of a whole-genome scan for linkage in the feline SMA pedigree using recently developed species-specific and comparative mapping resources. We identified a novel SMA gene candidate, LIX1, in an approximately140-kb de ...[more]