MOLECULAR BIOLOGY OF THE MENKES SYNDROME GENE
$0M01FY2000RRNIH
University Of Michigan At Ann Arbor, Ann Arbor MI
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Abstract
The purpose of this study is to clone and characterize the gene responsible for Menke's syndrome, an X-linked recessive disorder of copper neurologic impairment with an incidence as high as 1 in 40,000 births. Our cloning strategy has been based on the physical translocation breakpoint interrupting the MNK gene. We have recently identified and cloned the gene and are currently characterizing the gene and protein product at all levels.
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