Ontology highlight
ABSTRACT:
SUBMITTER: Melin M
PROVIDER: S-EPMC2721957 | biostudies-literature | 2007 Feb
REPOSITORIES: biostudies-literature
Melin M M Entesarian M M Carlsson G G Garwicz D D Klein C C Fadeel B B Nordenskjöld M M Palmblad J J Henter J I JI Dahl N N
Biochemical and biophysical research communications 20061220 3
Autosomal recessive severe congenital neutropenia (SCN) or Kostmann syndrome is characterised by reduced neutrophil counts and subsequent recurrent bacterial infections. The disease was originally described in a large consanguineous pedigree from Northern Sweden. A genome-wide autozygosity scan was initiated on samples from four individuals in the original pedigree using high density single nucleotide polymorphism (SNP) genotyping arrays in order to map the disease locus. Thirty candidate region ...[more]