Bergeron, M; Simonin, A; Bürzle, M; Hediger, M (2008). Inherited epithelial transporter disorders-an overview. Journal of inherited metabolic disease, 31(2), pp. 178-187. Lancaster, UK: Springer Netherlands 10.1007/s10545-008-0861-6
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In the late 1990s, the identification of transporters and transporter-associated genes progressed substantially due to the development of new cloning approaches such as expression cloning and, subsequently, to the implementation of the human genome project. Since then, the role of many transporter genes in human diseases has been elucidated. In this overview, we focus on inherited disorders of epithelial transporters. In particular, we review genetic defects of the genes encoding glucose transporters (SLC2 and SLC5 families) and amino acid transporters (SLC1, SLC3, SLC6 and SLC7 families).
Item Type: |
Journal Article (Original Article) |
|---|---|
Division/Institute: |
04 Faculty of Medicine > Pre-clinic Human Medicine > Institute of Biochemistry and Molecular Medicine |
UniBE Contributor: |
Hediger, Matthias |
ISSN: |
0141-8955 |
ISBN: |
18415698 |
Publisher: |
Springer Netherlands |
Language: |
English |
Submitter: |
Factscience Import |
Date Deposited: |
04 Oct 2013 15:03 |
Last Modified: |
05 Dec 2022 14:19 |
Publisher DOI: |
10.1007/s10545-008-0861-6 |
PubMed ID: |
18415698 |
Web of Science ID: |
000255646600005 |
BORIS DOI: |
10.7892/boris.27334 |
URI: |
https://boris.unibe.ch/id/eprint/27334 (FactScience: 106073) |
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