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Contents
Abbreviations ................................................................................. 9
Chapter 1
Introduction and Outline of the thesis ................................. 11
Chapter 2.1
Functional characterization of missense variants in the creatine
transporter gene (SLC6A8): improved diagnostic application. ..... 25
Human Mutation, 2007
Chapter 2.2
Detection of variants in SLC6A8 and functional analysis of
unclassified missense variants. .......................................... 35
Molecular Genetics and Metabolism, 2012
Chapter 2.3
Characterization of novel SLC6A8 variants with the use of
splice-site analysis tools and implementation of a newly
developed LOVD database. ............................................... 47
European Journal of Human Genetics, 2011
Chapter 3
Detection of low-level somatic and germline mosaicism by
denaturing high-performance liquid chromatography in a
EURO-MRX family with SLC6A8 deficiency. ............................ 57
Neurogenetics, 2008
Chapter 4
Phenotype and genotype in 101 males with X-linked creatine
transporter deficiency. ................................................... 67
Journal of Medical Genetics, 2013
Chapter 5
Summary and Discussion .................................................. 83
Chapter 6
Future perspectives ....................................................... 93
Nederlandse samenvatting .................................................................. 99
Dankwoord ....................................................................................103
Curriculum vitae .............................................................................105