Novel mutations in typical and atypical genetic loci through exome sequencing in autosomal recessive cerebellar ataxia families

Clinical Genetics

Volumn 86, Issue 4, 2014, Pages 335-341

  Faruq, M ^a,b   Narang, A ^a   Kumari, R ^a   Pandey, R ^a   Garg, A ^b   Behari, M ^b   Dash, Debasis ^a   Srivastava, Achal Kumar ^b   Mukerji, Mitali ^a  

^a CSIR INSTITUTE OF GENOMICS AND INTEGRATIVE BIOLOGY   (India)

^b ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

Author keywords

Ataxia; Exome sequencing; Novel mutation; Recessive and neurodegenerative disorder

Indexed keywords

ARTICLE; ATAXIA; AUTOSOMAL RECESSIVE DISORDER; CEREBELLAR ATAXIA; EARLY DIAGNOSIS; EXOME; FRIEDREICH ATAXIA; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; GENETIC VARIABILITY; GENOTYPE; HEARING IMPAIRMENT; HOMOZYGOSITY; HUMAN; MISSENSE MUTATION; MYOCLONUS EPILEPSY; ONSET AGE; PHENOTYPE; PREVALENCE; RECESSIVE INHERITANCE; CLASSIFICATION; COMPLICATION; GENETIC LINKAGE; GENETICS; HIGH THROUGHPUT SEQUENCING; INDIA; PATHOLOGY; PEDIGREE; SPINOCEREBELLAR DEGENERATION;

C10ORF2 PROTEIN, HUMAN; DNA HELICASE; MITOCHONDRIAL PROTEIN;

AGE OF ONSET; CEREBELLAR ATAXIA; DNA HELICASES; EXOME; GENETIC LINKAGE; HEARING LOSS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INDIA; MITOCHONDRIAL PROTEINS; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; SPINOCEREBELLAR DEGENERATIONS;

EID: 84908235039     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12279     Document Type: Article

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