You are not logged in.

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
Persistent URL http://hdl.handle.net/10536/DRO/DU:30026929

Connect to link resolver
 
Unless expressly stated otherwise, the copyright for items in DRO is owned by the author, with all rights reserved.

Versions
Version Filter Type
Citation counts: TR Web of Science Citation Count  Cited 0 times in TR Web of Science
Scopus Citation Count Cited 0 times in Scopus
Google Scholar Search Google Scholar
Access Statistics: 305 Abstract Views  -  Detailed Statistics
Created: Thu, 01 Apr 2010, 15:50:15 EST

Every reasonable effort has been made to ensure that permission has been obtained for items included in DRO. If you believe that your rights have been infringed by this repository, please contact drosupport@deakin.edu.au.