Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: High degree of allelic heterogeneity and prevalence of deletions

European Journal of Human Genetics

Volumn 8, Issue 12, 2000, Pages 946-954

  Gómez Garre, Pilar ^a   Sanz, Yolanda ^a   Rodríguez De Córdoba, Santiago ^a,b   Serratosa, José M ^a,c  

^a HOSPITAL UNIVERSITARIO FUNDACIÓN JIMÉNEZ DÍAZ   (Spain)

^b CENTRO DE INVESTIGACIONES BIOLÓGICAS   (Spain)

^c Hospital UniversitarioFundación Jiménez Díaz   (Spain)

Author keywords

Epilepsy; EPM2A; Genetics Myoclonus; Lafora; Mutation; Polymorphism; Progressive; PTPase

Indexed keywords

GLYCOGEN; MICROSATELLITE DNA; PROTEIN TYROSINE PHOSPHATASE;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CELL INCLUSION; CLINICAL ARTICLE; EPILEPSY; EVOLUTION; EXON; FOUNDER EFFECT; GENE DELETION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC HETEROGENEITY; HAPLOTYPE; HUMAN; MISSENSE MUTATION; MOLECULAR CLONING; MYOCLONUS; MYOCLONUS EPILEPSY; NEUROLOGIC DISEASE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PREVALENCE; PRIORITY JOURNAL; SPAIN;

ADOLESCENT; AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CODON, INITIATOR; DNA, COMPLEMENTARY; EXONS; GENE DELETION; GENE FREQUENCY; GENETIC HETEROGENEITY; HAPLOTYPES; HUMANS; LAFORA DISEASE; MOLECULAR SEQUENCE DATA; POLYMORPHISM, GENETIC; PROTEIN-TYROSINE-PHOSPHATASE;

EID: 0034500405     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200571     Document Type: Article

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