Article
Analysis of the lysosomal storage disease Chediak-Higashi syndrome.
Traffic (Copenhagen, Denmark) - 1 Nov 2000
Ward D M, Griffiths G M, Stinchcombe J C, Kaplan J
Abstract excerpt
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder of human, mouse (beige) and other mammalian species. The same genetic defect was found to result in the disease in all species identified, permitting a positional cloning approach using the mouse model beige to identify the responsible gene. The CHS gene was cloned and mutations identified in affected species. This review discusses the clinical...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.