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The invention relates to a diagnostic process for detecting infantile neuronal ceroid lipofuscinosis and for carrying out a survey of disease carriers. In the process, a genetic error in a gene which encodes palmitoyl protein thioesterase is detected in a patient sample. The invention also relates t...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser:	SANTAVUORI, PIRKKO, HELLSTEN, ELINA, VESA, JOUNI, PELTONEN, LEENA, RAPOLA, JUHANI
Format:	Patent
Sprache:	fin ; swe
Schlagworte:	BEER BIOCHEMISTRY CHEMISTRY COMPOSITIONS OR TEST PAPERS THEREFOR COMPOSITIONS THEREOF CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES CULTURE MEDIA DERIVATIVES THEREOF ENZYMOLOGY MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS METALLURGY MICROBIOLOGY MICROORGANISMS OR ENZYMES MUTATION OR GENETIC ENGINEERING NUCLEIC ACIDS NUCLEOSIDES NUCLEOTIDES ORGANIC CHEMISTRY PROCESSES OF PREPARING SUCH COMPOSITIONS PROPAGATING, PRESERVING OR MAINTAINING MICROORGANISMS SPIRITS SUGARS VINEGAR WINE
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Beschreibung
Zusammenfassung:	The invention relates to a diagnostic process for detecting infantile neuronal ceroid lipofuscinosis and for carrying out a survey of disease carriers. In the process, a genetic error in a gene which encodes palmitoyl protein thioesterase is detected in a patient sample. The invention also relates to a DNA sequence which encodes an active or incorrectly functioning palmitoyl protein thioesterase enzyme or to a fragment of this sequence.