Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1

Nature Genetics

Volumn 15, Issue 3, 1997, Pages 298-302

  Lafrenière, Ronald G ^a   Rochefort, Daniel L ^a   Chrétien, Nathalie ^a   Rommens, Johanna M ^b   Cochius, Jeffrey I ^c   Kälviäinen, Reetta ^d   Nousiainen, Unto ^e   Patry, George ^f   Farrell, Kevin ^g   Söderfeldt, Birgitta ^h   Federico, Antonio ⁱ   Hale, Bradford R ^j   Cossio, Otto Hernandez ^k   Sørensen, Troels ^l   Pouliot, Marc A ^j   Kmiec, Tomasz ^m   Uldall, Peter ⁿ   Janszky, József ^j   Pranzatelli, Michael R ^o   Andermann, Frederick ^p   Andermann, Eva ^p   Rouleau, Guy A ^a   more..

^a MONTREAL GENERAL HOSPITAL   (Canada)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c NORFOLK AND NORWICH HOSPITAL   (United Kingdom)

^d KUOPIO UNIVERSITY HOSPITAL   (Finland)

^e UNIVERSITY OF EASTERN FINLAND   (Finland)

^f UNIVERSITÉ LAVAL   (Canada)

^g UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^h LINKÖPING UNIVERSITY HOSPITAL   (Sweden)

ⁱ UNIVERSITY OF SIENA   (Italy)

^j Dept of Pediatric Neurology ^*  (Hungary)

^k Hospital Santa Casa de Curitiba   (Brazil)

^l UNIVERSITY OF COPENHAGEN   (Denmark)

^m CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

ⁿ Dianalund Epilepsy Hospital   (Denmark)

^o GEORGE WASHINGTON UNIVERSITY   (United States)

^p MCGILL UNIVERSITY   (Canada)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CYSTATIN; GENE PRODUCT; STEFIN B;

ALLELE; ARTICLE; CHROMOSOME 21Q; CLINICAL ARTICLE; COGNITIVE DEFECT; CONTROLLED STUDY; DNA FLANKING REGION; GENE INSERTION; HUMAN; INTRON; MYOCLONUS EPILEPSY; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; TANDEM REPEAT; TONIC CLONIC SEIZURE;

BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 21; CYSTATINS; CYSTEINE PROTEINASE INHIBITORS; DNA PRIMERS; DNA TRANSPOSABLE ELEMENTS; EPILEPSIES, MYOCLONIC; FEMALE; HAPLOTYPES; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; REGULATORY SEQUENCES, NUCLEIC ACID; REPETITIVE SEQUENCES, NUCLEIC ACID;

EID: 0031034894     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0397-298     Document Type: Article

References (20)

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