The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene

Neurogenetics

Volumn 1, Issue 4, 1998, Pages 253-257

  Forrest, Susan M ^a   Knight, Melanie ^a   Delatycki, Martin B ^a   Paris, Damien ^a   Williamson, Robert ^a   King, John ^b   Yeung, Leone ^c   Nassif, Najah ^c   Nicholson, Garth A ^c  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b ROYAL MELBOURNE HOSPITAL   (Australia)

^c UNIVERSITY OF SYDNEY   (Australia)

Author keywords

Friedreich ataxia; GAA expansion; Phenotype; Point mutation

Indexed keywords

APBA1 PROTEIN, HUMAN; NERVE PROTEIN; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

ADOLESCENT; ADULT; ALTERNATIVE RNA SPLICING; ARTICLE; CASE REPORT; CHILD; DNA SEQUENCE; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; EXON; FEMALE; FRIEDREICH ATAXIA; GENETICS; HUMAN; MALE; PENETRANCE; PHENOTYPE; POINT MUTATION; PREDICTION AND FORECASTING; PRESCHOOL CHILD; TRINUCLEOTIDE REPEAT;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADOLESCENT; ADULT; ALTERNATIVE SPLICING; CHILD; CHILD, PRESCHOOL; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; EXONS; FEMALE; FRIEDREICH ATAXIA; HUMANS; MALE; NERVE TISSUE PROTEINS; PENETRANCE; PHENOTYPE; POINT MUTATION; PREDICTIVE VALUE OF TESTS; SEQUENCE ANALYSIS, DNA; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 0032129416     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100480050037     Document Type: Article

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