A novel ALS2 splice-site mutation in a Cypriot juvenile-onset primary lateral sclerosis family

Neurology

Volumn 72, Issue 1, 2009, Pages 28-32

  Mintchev, Nikolay ^a   Zamba Papanicolaou, Eleni ^a   Kleopa, Kleopas A ^a   Christodoulou, Kyproula ^a  

^a CYPRUS INSTITUTE OF NEUROLOGY AND GENETICS   (Cyprus)

Author keywords

[No Author keywords available]

Indexed keywords

ALS2 PROTEIN; GENOMIC DNA; MUTANT PROTEIN; RNA; UNCLASSIFIED DRUG; ALS2 PROTEIN, HUMAN; GUANINE NUCLEOTIDE EXCHANGE FACTOR;

ADOLESCENT; ADULT; ARTICLE; CLINICAL ARTICLE; CLINICAL EVALUATION; DISEASE COURSE; DISEASE SEVERITY; EXON; FAMILY STUDY; FEMALE; FRAMESHIFT MUTATION; GENE LOCUS; GENE SEQUENCE; GENOTYPE; HOMOZYGOTE; HUMAN; INTRON; LINKAGE ANALYSIS; LYMPHOBLASTOID CELL; MALE; NUCLEOTIDE SEQUENCE; PRIMARY LATERAL SCLEROSIS; PRIORITY JOURNAL; PROMOTER REGION; RNA ANALYSIS; CYPRUS; FAMILY HEALTH; GENETIC LINKAGE; GENETICS; MIDDLE AGED; MOTOR NEURON DISEASE; RNA SPLICING;

ADOLESCENT; ADULT; CYPRUS; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY HEALTH; FEMALE; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HUMANS; LINKAGE (GENETICS); MALE; MIDDLE AGED; MOTOR NEURON DISEASE; RNA SPLICE SITES;

EID: 63849183994     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/01.wnl.0000338530.77394.60     Document Type: Article

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