Year: 2009
Type: other
Abstract: Chapter 1.1propose a new classifi cation system for PXE, since the most recent classifi cation system dated from 1994 [16].Since then the gene was discovered and new insights emerged.The third part of the thesis on molecular genetics starts with chapter 5, in which we report the discovery of ABCC6 as the gene that causes PXE.Chapters 6 and 7 show the results of ABCC6 analysis in our patient population, including the fi nding of new mutations, and give overviews of all reported ABCC6 mutations.More detailed molecular and clinical data are given on a limited number of patients and families.In chapter 8 the c.Arg1141X mutation, the most frequent ABCC6 mutation in the European population, is further characterized by determining the haplotypes around the ABCC6 locus and studying expression of ABCC6 in leukocytes and fi broblasts of patients and controls.Finally, in chapter 9 we discuss the main fi ndings of our studies together with suggestions for future research.Chapter 1.
Author: Astrid S. Plomp
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W2160526452