Ontology highlight
ABSTRACT:
SUBMITTER: Martignetti JA
PROVIDER: S-EPMC1288213 | biostudies-literature | 2000 Apr
REPOSITORIES: biostudies-literature
Martignetti J A JA Heath K E KE Harris J J Bizzaro N N Savoia A A Balduini C L CL Desnick R J RJ
American journal of human genetics 20000317 4
The May-Hegglin anomaly (MHA) is an autosomal dominant platelet disorder of unknown etiology. It is characterized by thrombocytopenia, giant platelets, and leukocyte inclusion bodies, and affected heterozygotes are predisposed to bleeding episodes. The MHA gene has recently been localized, by means of linkage analysis, to a 13.6-cM region on chromosome 22, and the complete chromosome 22 sequence has been reported. We recently performed a genome scan for the MHA gene in 29 members of a large, mul ...[more]