Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations

European Journal of Human Genetics

Volumn 22, Issue 2, 2014, Pages 286-288

  Elsayed, Solaf M ^a,b   Heller, Raoul ^c   Thoenes, Michaela ^c   Zaki, Maha S ^d   Swan, Daniel ^e   Elsobky, Ezzat ^a,b   Zühlke, Christine ^f   Ebermann, Inga ^c   Nürnberg, Gudrun ^g,h   Nürnberg, Peter ^g,h   Bolz, Hanno J ^c,i  

^a Medical Genetics Center   (Egypt)

^b Ain Shams University   (Egypt)

^c UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^d NATIONAL RESEARCH CENTRE   (Egypt)

^e OXFORD GENE TECHNOLOGY   (United Kingdom)

^f UNIVERSITY OF LÜBECK   (Germany)

^g UNIVERSITY OF COLOGNE   (Germany)

^h UNIVERSITY OF COLOGNE   (Germany)

ⁱ Bioscientia Center for Human Genetics   (Germany)

Author keywords

III spectrin; SCA5; spinocerebellar ataxia; SPTBN2

Indexed keywords

BETA3 SPECTRIN; SPECTRIN; UNCLASSIFIED DRUG; SPTBN2 PROTEIN, HUMAN; STOP CODON;

ARTICLE; ATAXIA; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT SPINOCEREBELLAR ATAXIA TYPE 5; AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA; AUTOSOMAL RECESSIVE DISORDER; BABINSKI REFLEX; CASE REPORT; CHILD; DEVELOPMENTAL DISORDER; DYSMETRIA; EXOME; FEMALE; FRAMESHIFT MUTATION; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; NONSENSE MUTATION; PRIORITY JOURNAL; SCHOOL CHILD; SPASTICITY; SPINOCEREBELLAR DEGENERATION; TENDON REFLEX; TREMOR; ALLELE; CONSANGUINITY; DEVELOPMENTAL DISABILITIES; GENETIC LINKAGE; GENETICS; HOMOZYGOTE; MALE; NUCLEOTIDE SEQUENCE; PEDIGREE; SPINOCEREBELLAR ATAXIAS; STOP CODON;

CANIS FAMILIARIS; MUS;

ALLELES; BASE SEQUENCE; CHILD; CODON, NONSENSE; CONSANGUINITY; DEVELOPMENTAL DISABILITIES; DNA MUTATIONAL ANALYSIS; FEMALE; HOMOZYGOTE; HUMANS; LOD SCORE; MALE; PEDIGREE; SPECTRIN; SPINOCEREBELLAR ATAXIAS;

EID: 84892828509     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.150     Document Type: Article

References (11)

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