Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myodonus epilepsy (EPM1)

American Journal of Human Genetics

Volumn 60, Issue 2, 1997, Pages 342-351

  Lalioti, Maria D ^a   Mirotsou, Maria ^a   Buresi, Catherine ^b   Peitsch, Manuel Claude ^c   Rossier, Colette ^a   Ouazzani, Réda ^d   Baldy Moulinier, Michel ^e   Bottani, Armand ^c   Malafosse, Alain ^b   Antonarakis, Stylianos E ^a,c,f  

^a UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

^b Hôpital Belle Idèe   (Switzerland)

^c GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^d IBN SINA HOSPITAL   (Morocco)

^e Centre National de la Recherche Scientifique   (France)

^f Centre Médical Universitaire   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTATIN;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; ENZYME INHIBITION; GENE LOCATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC LINKAGE; GRAND MAL EPILEPSY; HUMAN; HUMAN CELL; INTRON; MISSENSE MUTATION; MYOCLONUS EPILEPSY; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; CYSTATINS; CYSTEINE PROTEINASE INHIBITORS; DNA MUTATIONAL ANALYSIS; EPILEPSIES, MYOCLONIC; EXONS; FRAMESHIFT MUTATION; HUMANS; INTRONS; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEIN CONFORMATION; REPETITIVE SEQUENCES, NUCLEIC ACID; RNA SPLICING; SEQUENCE DELETION;

EID: 16944365407     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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