Identification of a novel twinkle mutation in a family with infantile onset spinocerebellar ataxia by whole exome sequencing

Pediatric Neurology

Volumn 46, Issue 3, 2012, Pages 172-177

  Dündar, Halil ^a   Özgül, Rza Köksal ^a   Yalnzoǧlu, Dilek ^a   Erdem, Sevim ^a   Oǧuz, Kader Karli ^a   Tuncel, Deniz ^b   Temuçin, Çaǧri Mesut ^a   Dursun, Ali ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

^b Department of Neurology   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; ATHETOSIS; CEREBELLAR ATAXIA; CHILD; CLINICAL ARTICLE; EXOME; FEMALE; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC IDENTIFICATION; HEARING IMPAIRMENT; HOMOZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; NUCLEOTIDE SEQUENCE; OPHTHALMOPLEGIA; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; RARE DISEASE; SCHOOL CHILD; SEIZURE; SPINOCEREBELLAR ATAXIA;

AGE OF ONSET; DNA HELICASES; EXOME; FEMALE; HUMANS; MALE; MUTATION; PEDIGREE; SPINOCEREBELLAR ATAXIAS;

EID: 84857342288     PISSN: 08878994     EISSN: 18735150     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2011.12.006     Document Type: Article

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