Novel cystatin B mutation and diagnostic PCR assay in an Unverricht- Lundborg progressive myoclonus epilepsy patient

American Journal of Medical Genetics - Neuropsychiatric Genetics

Volumn 74, Issue 5, 1997, Pages 467-471

  Bespalova, Irina N ^a   Adkins, Steve ^a   Pranzatelli, Michael ^b   Burmeister, Margit ^a,c,d  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b National Pediatric Myoclonus Center   (United States)

^c UNIVERSITY OF MICHIGAN HEALTH SYSTEM   (United States)

^d UNIVERSITY OF MICHIGAN   (United States)

Author keywords

Cystatin B; Deletion; EPM1; Mutation; Myoclonus epilepsy

Indexed keywords

CYSTATIN B; MESSENGER RNA; UNCLASSIFIED DRUG;

ARTICLE; BASE PAIRING; DISEASE CLASSIFICATION; DNA SEQUENCE; FRAMESHIFT MUTATION; GENE DELETION; HUMAN; HUMAN CELL; HUMAN TISSUE; MYOCLONUS EPILEPSY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RNA SPLICING; SEQUENCE ANALYSIS;

AMINO ACID SEQUENCE; CYSTATINS; CYSTEINE PROTEINASE INHIBITORS; EPILEPSIES, MYOCLONIC; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; POLYMERASE CHAIN REACTION;

EID: 0030800771     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19970919)74:5<467::AID-AJMG1>3.0.CO;2-L     Document Type: Article

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