A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia

BMC Medical Genetics

Volumn 9, Issue , 2008, Pages

  Nicolaou, Paschalis ^a   Georghiou, Anthi ^a   Votsi, Christina ^a   Middleton, Lefkos T ^b   Zamba Papanicolaou, Eleni ^a   Christodoulou, Kyproula ^a  

^a CYPRUS INSTITUTE OF NEUROLOGY AND GENETICS   (Cyprus)

^b IMPERIAL COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; ALPHA FETOPROTEIN; GUANINE; HELICASE; SENATAXIN; RNA HELICASE; SETX PROTEIN, HUMAN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CEREBELLAR ATAXIA; CEREBELLUM ATROPHY; CHROMOSOME 9Q; CYPRUS; EXON; FAMILY; FEMALE; GENE DELETION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; GENETIC SCREENING; HOMOZYGOSITY; HUMAN; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; SCHOOL CHILD; AMINO ACID SEQUENCE; BRAIN; CHILD; CHROMOSOME 9; GENETICS; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY; PEDIGREE; RECESSIVE GENE;

ADOLESCENT; AMINO ACID SEQUENCE; BRAIN; CEREBELLAR ATAXIA; CHILD; CHROMOSOMES, HUMAN, PAIR 9; CYPRUS; FEMALE; GENES, RECESSIVE; HUMANS; LOD SCORE; MAGNETIC RESONANCE IMAGING; MALE; PEDIGREE; RNA HELICASES; SEQUENCE DELETION;

EID: 42449098870     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-9-28     Document Type: Article

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