Year: 2004
Type: dissertation
Abstract: 9 REVIEW OF THE LITERATURE 10 1. HUMAN GENETICS 10 1.1 The Finnish Disease Heritage 10 1.2 The Human Genome Project 12 1.3 Identification of Human Disease Genes 13 1.4 Functional and Comparative Genomics 15 2. NEURONAL CEROID LIPOFUSCINOSES 18 2.1 Historical Background 18 2.2 Classification and Nomenclature 18 2.3 Defective Genes and Proteins 20 2.4 Animal Models 23 2.5 New Approaches to Characterize Molecular Pathogenesis 26 2.6 Diagnostics 27 2.7 Therapies 28 3. CLN5 (FINNISH VARIANT LATE INFANTILE NCL) 30 3.1 Clinical Features 30 3.2 Genetic Background 31 3.3 Pathology 33 3.4 Brain Imaging 34 AIMS OF THE STUDY 35 MATERIALS AND METHODS 36 ETHICAL CONSIDERATIONS 38
Source: Työväentutkimus Vuosikirja
Author: Ville Holmberg
Language: English
Subfield: Genetics (clinical)
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W2166770352