Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Rosenberg, EH; Struys, EA; Hyland, K; Plecko, B; Waters, PJ; Mercimek-Mahmutoglu, S; Stockler-Ipsiroglu, S; Gallagher, RC; Scharer, G; Van Hove, JL; Jakobs, C; Salomons, GS.
Mutation detection in DNA isolated from cerebrospinal fluid and urine: Clinical utility and pitfalls of multiple displacement amplification.
Mol Genet Metab. 2009; 97(4):312-314
Doi: 10.1016/j.ymgme.2009.05.002
Web of Science
PubMed
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- Co-Autor*innen der Med Uni Graz
- Plecko Barbara
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- Abstract:
- This study describes the use of cerebral spinal fluid (CSF) and/or urine as source of DNA for mutation analysis combined with multiple displacement amplification. The findings illustrate the opportunities and pitfalls of these methods in the search for identification of the pathogenic mutations in the case that only scarce material is available such as CSF.
- Find related publications in this database (using NLM MeSH Indexing)
- Base Sequence -
- DNA - cerebrospinal fluid
- DNA - genetics
- DNA - urine
- Humans -
- Nucleic Acid Amplification Techniques - methods
- Find related publications in this database (Keywords)
- Inborn error of metabolism
- Multiple displacement amplification
- Whole genome amplification
- Allelic dropout
- Preferential amplification