Refinement of the hereditary xerocytosis locus on chromosome 16q in a large Canadian kindred.

doi:10.1016/j.bcmd.2011.08.001

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Article

Refinement of the hereditary xerocytosis locus on chromosome 16q in a large Canadian kindred.

Blood cells, molecules & diseases - 15 Dec 2011

Houston B L, Zelinski T, Israels S J, Coghlan G, Chodirker B N, Gallagher P G, Houston D S, Zarychanski R

Abstract excerpt

The hereditary stomatocytoses are a group of heterogeneous conditions associated with chronic red cell hemolysis for which the causative genetic mutations are not known. We investigated 137 members of a large Canadian kindred with phenotypic findings consistent with hereditary xerocytosis, one of the most common stomatocytosis syndromes. The objectives of this study were to characterize the clinical hallmarks of...

Topics

Adolescent
Adult
Anemia, Hemolytic, Congenital
Canada
Child
Chromosome Mapping
Chromosomes, Human, Pair 16
Female
Genetic Linkage
Genetic Loci
Haplotypes
Humans
Hydrops Fetalis
Male
Middle Aged
Pedigree
Phenotype
Young Adult

Source

Open in PubMed

Identifiers

PMID: 21944700
DOI: 10.1016/j.bcmd.2011.08.001

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