Article
Localization of a gene for familial hemophagocytic lymphohistiocytosis at chromosome 9q21.3-22 by homozygosity mapping.
American journal of human genetics - 1 Jan 1999
Ohadi M, Lalloz M R, Sham P, Zhao J, Dearlove A M, Shiach C, Kinsey S, Rhodes M, Layton D M
Abstract excerpt
Familial hemophagocytic lymphohistiocytosis (FHL), also known as familial erythrophagocytic lymphohistiocytosis and familial histiocytic reticulosis, is a rare autosomal recessive disorder of early childhood characterized by excessive immune activation. Linkage of the disease gene to an approxima...
Topics
- Adolescent
- Adult
- Alleles
- Child
- Child, Preschool
- Chromosome Mapping
- Chromosomes, Human, Pair 9
- Consanguinity
- Female
- Genotype
- Histiocytosis, Non-Langerhans-Cell
- Homozygote
- Humans
- Infant
- Lod Score
- Male
- Microsatellite Repeats
- Pakistan