Cystatin B: Mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients

European Journal of Human Genetics

Volumn 15, Issue 2, 2007, Pages 185-193

  Joensuu, Tarja ^a   Kuronen, Mervi ^a   Alakurtti, Kirsi ^a   Tegelberg, Saara ^a   Hakala, Paula ^a   Aalto, Antti ^b   Huopaniemi, Laura ^c   Aula, Nina ^a   Michellucci, Roberto ^d   Eriksson, Kai ^e   Lehesjoki, Anna Elina ^a  

^a UNIVERSITY OF HELSINKI   (Finland)

^b UNIVERSITY OF HELSINKI   (Finland)

^c Rational Drug Design Program   (Finland)

^d BELLARIA HOSPITAL   (Italy)

^e TAMPERE UNIVERSITY OF TECHNOLOGY   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; CATHEPSIN; CYSTATIN B; CYTOSINE; GLUTAMIC ACID; ISOPROTEIN; MESSENGER RNA;

ADULT; ALTERNATIVE RNA SPLICING; AMINO ACID SEQUENCE; ARTICLE; CONTROLLED STUDY; FETUS; GENE DELETION; GENE EXPRESSION; GENE IDENTIFICATION; GENETIC ASSOCIATION; GENETIC CODE; GENETIC CONSERVATION; GENETIC SCREENING; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; INTRON; LYMPHOBLASTOID CELL; LYSOSOME; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; MYOCLONUS EPILEPSY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN BINDING; PROTEIN EXPRESSION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ALTERNATIVE SPLICING; CYSTATINS; DNA MUTATIONAL ANALYSIS; FEMALE; GENE EXPRESSION; HOMOZYGOTE; HUMANS; MALE; MICROSATELLITE REPEATS; MUTATION; MYOCLONIC EPILEPSIES, PROGRESSIVE; POLYMERASE CHAIN REACTION; PROTEIN ISOFORMS; RNA, MESSENGER; UNVERRICHT-LUNDBORG SYNDROME;

EID: 33846287978     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201723     Document Type: Article

References (29)

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