A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2)

Human Molecular Genetics

Volumn 8, Issue 2, 1999, Pages 345-352

  Serratosa, José M ^a   Gómez Garre, Pilar ^a   Gallardo, Ma Esther ^b,c   Anta, Berta ^a   Beltrán Valero De Bernabé, Daniel ^b,c   Lindhout, Dick ^d   Augustijn, Paul B ^e   Tassinari, Carlo A ^f   Michelucci, Roberto ^f   Malafosse, Alain ^g   Topcu, Meral ^h   Grid, Djamel ⁱ   Dravet, Charlotte ^j   Berkovic, Samuel F ^k   Rodríguez De Córdoba, Santiago ^b,c  

^a Fund Jiménez Díaz   (Spain)

^b Cirugía Oncológica Unidad de Patología Mamaria   (Spain)

^c CENTRO DE INVESTIGACIONES BIOLÓGICAS   (Spain)

^d ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^e Instituut voor Epilepsiebestrijding   (Netherlands)

^f BELLARIA HOSPITAL   (Italy)

^g UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

^h HACETTEPE UNIVERSITY   (Turkey)

ⁱ GÉNÉTHON   (France)

^j CENTRE SAINT PAUL   (France)

^k AUSTIN HEALTH   (Australia)

more..

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN TYROSINE PHOSPHATASE;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CELL INCLUSION; CHROMOSOME 6Q; DETERIORATION; GENE MUTATION; GLYCOGEN METABOLISM; HOMOZYGOSITY; HUMAN; MYOCLONUS EPILEPSY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 6; DNA; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; EPILEPSIES, MYOCLONIC; FEMALE; GENES; HUMANS; MALE; MICROSATELLITE REPEATS; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEIN-TYROSINE-PHOSPHATASE; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 0344359726     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.2.345     Document Type: Article

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