Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1

Nature Genetics

Volumn 15, Issue 4, 1997, Pages 393-396

  Virtaneva, Kimmo ^a   D'Amato, Elena ^a   Miao, Jinmin ^a   Koskiniemi, Marjaleena ^a   Norio, Reijo ^b   Avanzini, Giuliano ^c   Franceschetti, Silvana ^c   Michelucci, Roberto ^d   Tassinari, Carlo A ^d   Omer, Salah ^e,f   Pennacchio, Len A ^g,h   Myers, Richard M ^g   Dieguez Lucena, José L ^a,i   Krahe, Ralf ^a   De La Chapelle, Albert ^a   Lehesjoki, Anna Elina ^a  

^a UNIVERSITY OF HELSINKI   (Finland)

^b Vaestoliitto   (Finland)

^c DEPARTMENT OF NEUROSURGERY   (Italy)

^d UNIVERSITY OF BOLOGNA   (Italy)

^e KING KHALID HOSPITAL   (Saudi Arabia)

^f Halifax General Hospital   (United Kingdom)

^g STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^h STANFORD UNIVERSITY   (United States)

ⁱ UNIVERSITY OF MÁLAGA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTATIN; DNA MINISATELLITE; MESSENGER RNA;

ALGERIA; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHROMOSOME 21; CONTROLLED STUDY; FAMILIAL DISEASE; FEMALE; FINLAND; GENE MUTATION; HAPLOTYPE; HUMAN; ITALY; MAJOR CLINICAL STUDY; MALE; MYOCLONUS EPILEPSY; PRIORITY JOURNAL; PROMOTER REGION; RESTRICTION MAPPING; SAUDI ARABIA; SOUTHERN BLOTTING; TANDEM REPEAT; UNITED STATES;

EID: 17744419667     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0497-393     Document Type: Article

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