Ontology highlight
ABSTRACT:
SUBMITTER: Lafreniere RG
PROVIDER: S-EPMC1181970 | biostudies-literature | 2004 May
REPOSITORIES: biostudies-literature
Lafreniere Ronald G RG MacDonald Marcia L E ML Dube Marie-Pierre MP MacFarlane Julie J O'Driscoll Mary M Brais Bernard B Meilleur Sebastien S Brinkman Ryan R RR Dadivas Owen O Pape Terry T Platon Christele C Radomski Chris C Risler Jenni J Thompson Jay J Guerra-Escobio Ana-Maria AM Davar Gudarz G Breakefield Xandra O XO Pimstone Simon N SN Green Roger R Pryse-Phillips William W Goldberg Y Paul YP Younghusband H Banfield HB Hayden Michael R MR Sherrington Robin R Rouleau Guy A GA Samuels Mark E ME
American journal of human genetics 20040401 5
Hereditary sensory and autonomic neuropathy (HSAN) type II is an autosomal recessive disorder characterized by impairment of pain, temperature, and touch sensation owing to reduction or absence of peripheral sensory neurons. We identified two large pedigrees segregating the disorder in an isolated population living in Newfoundland and performed a 5-cM genome scan. Linkage analysis identified a locus mapping to 12p13.33 with a maximum LOD score of 8.4. Haplotype sharing defined a candidate interv ...[more]