Rapid detection of the two most common CLN2 mutations causing classical late infantile neuronal ceroid lipofuscinosis

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Veröffentlicht in:	Clinical chemistry (Baltimore, Md.) Md.), 2000-10, Vol.46 (10), p.1696-1699
Hauptverfasser:	BODZIOCH, Marek, ASLANIDIS, Charalampos, KACINSKI, Marek, ZHONG, Nanbert, WISNIEWSKI, Krystyna E, SCHMITZ, Gerd
Format:	Artikel
Sprache:	eng
Schlagworte:	Aminopeptidases Biological and medical sciences Dipeptidyl-Peptidases and Tripeptidyl-Peptidases Endopeptidases Errors of metabolism Female Fluorescence Genetic Markers Genotype Humans Investigative techniques, diagnostic techniques (general aspects) Lipids (lysosomal enzyme disorders, storage diseases) Male Medical sciences Metabolic diseases Mutation Neuronal Ceroid-Lipofuscinoses - genetics Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques Peptide Hydrolases - genetics Polymerase Chain Reaction Serine Proteases
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