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  2. Neurofibromatosis type 1: mutational mechanisms and pseudogenes and pseudogenes

Neurofibromatosis type 1: mutational mechanisms and pseudogenes and pseudogenes

Open Access
Authors
  • M. Luijten
Supervisors
  • A. Westerveld
Cosupervisors
  • T.J.M. Hulsebos
Award date 01-06-2001
ISBN
  • 906464568X
  • 9789064645686
Number of pages 103
Organisations
  • Faculty of Medicine (AMC-UvA)
Document type PhD thesis
Note Research conducted at: Geneeskunde, GEMO
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Thesis
Cover
Titlepage
Contents
Introduction
Microsatellite instability and promoter methylation as possible causes of NF1 gene inactivation in neurofibromas
Limited contribution of interchromosomal gene conversion to NF1 gene mutation
Mechanism of spreading of the highly related neurofibromatosis type 1 (NF1) pseudogenes on chromosomes 2, 14 and 22
Duplication and transposition of the NF1 pseudogene regions on chromosomes 2, 14 and 22
Summary
Samenvatting in het Nederlands
Dankwoord
Curriculum Vitae
Abbreviations
List of Publications
Cover
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