Mutation analysis of the Menkes gene

Castelli, Alanna Clare. 2005, Mutation analysis of the Menkes gene, Ph.D. thesis, School of Life and Environmental Sciences, Deakin University.

Title Mutation analysis of the Menkes gene
Author Castelli, Alanna Clare.
Institution Deakin University
School School of Life and Environmental Sciences
Faculty Faculty of Science and Technology
Degree name Ph.D.
Date submitted 2005
Keyword(s) Hypocupremia - Genetic aspects
Hypocupremia - Diagnosis
Copper - Physiological effect
Copper proteins
Summary Menkes disease is a copper deficiency caused by mutations in the Menkes gene, which encodes a copper-transporting protein. This study identified the causative mutations in several Menkes patients, which provided a diagnostic test for relatives and identified critical regions of the Menkes protein. Further regions were identified through functional analysis of mutations introduced by in vitro mutagenesis.
Notes Degree conferred 2006.
Language eng
Description of original xv, 211 leaves : ill. ; 30 cm
Dewey Decimal Classification 616.396
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