Article
Positional cloning of the Chediak-Higashi syndrome gene: genetic mapping of the beige locus on mouse chromosome 13.
Journal of investigative medicine : the official publication of the American Federation for Clinical Research - 1 Oct 1996
Kingsmore S F, Barbosa M D, Tchernev V T, Detter J C, Lossie A C, Seldin M F, Holcombe R F
Abstract excerpt
BACKGROUND: Chediak-Higashi syndrome (CHS) is a systemic disorder of human and mouse (beige, bg) that is characterized by aberrant intracellular protein kinesis and lysosomal trafficking. Affected individuals exhibit a severe primary immune deficiency that principally affects the function of granulocytes and cytolytic lymphocytes and partial oculocutaneous albinism, platelet dysfunction, and neurodegeneration....
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