NEURONAL APOPTOSIS INHIBITORY PROTEIN, ITS GENE SEQUENCE AND MUTATIONS OF GENE CAUSATIVE OF SPINAL MUSCULAR ATROPHY

PROBLEM TO BE SOLVED: To provide a diagnostic method for spinal muscular atrophy due to deletion of neuronal apoptosis inhibitory protein gene. SOLUTION: The gene for autosomal recessive neurodegenerative disorder spinal muscular atrophy has been found to be mapped to a region of chromosome 5. The g...

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Hauptverfasser:	MACKENZIE ALEX E, MICHAEL MCLEAN, ROY NATALIE, KORNELUK ROBERT G, MAHADEVAN MANI S, IKEDA SHIGEMORI
Format:	Patent
Sprache:	eng
Schlagworte:	BEER BIOCHEMISTRY CHEMISTRY COMPOSITIONS OR TEST PAPERS THEREFOR COMPOSITIONS THEREOF CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES CULTURE MEDIA ENZYMOLOGY INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIRCHEMICAL OR PHYSICAL PROPERTIES MEASURING MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS METALLURGY MICROBIOLOGY MICROORGANISMS OR ENZYMES MUTATION OR GENETIC ENGINEERING ORGANIC CHEMISTRY PEPTIDES PHYSICS PROCESSES OF PREPARING SUCH COMPOSITIONS PROPAGATING, PRESERVING OR MAINTAINING MICROORGANISMS SPIRITS TESTING VINEGAR WINE
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Zusammenfassung:	PROBLEM TO BE SOLVED: To provide a diagnostic method for spinal muscular atrophy due to deletion of neuronal apoptosis inhibitory protein gene. SOLUTION: The gene for autosomal recessive neurodegenerative disorder spinal muscular atrophy has been found to be mapped to a region of chromosome 5. The gene encodes a protein having homology with apoptosis inhibitory proteins of viruses so that the encoded protein has been labelled as a neuronal apoptosis inhibitory protein (NAIP). Deletion in the NAIP domain was identified in patients with spinal muscular atrophy and not in the normal population. COPYRIGHT: (C)2006,JPO&NCIPI