Clinical and genetic study of friedreich ataxia in an Australian population

American Journal of Medical Genetics

Volumn 87, Issue 2, 1999, Pages 168-174

  Delatycki, Martin B ^a   Paris, Damien B B P ^b   Gardner, R J McKinlay ^b   Nicholson, Garth A ^b   Nassif, Najah ^b   Storey, Elsdon ^b   Macmillan, John C ^b   Collins, Veronica ^b   Williamson, Robert ^b   Forrest, Susan M ^b  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b NONE

Author keywords

Friedreich ataxia; Genotype; Phenotype

Indexed keywords

AMINO ACID; FRATAXIN; TRINUCLEOTIDE;

ALLELE; ARTICLE; AUSTRALIA; FEMALE; FRIEDREICH ATAXIA; GENE; GENE MUTATION; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; TRINUCLEOTIDE REPEAT;

ADOLESCENT; ADULT; AGE OF ONSET; AUSTRALIA; CARDIOMYOPATHIES; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; DIABETES MELLITUS; EUROPE; FEMALE; FRIEDREICH ATAXIA; HOMOZYGOTE; HUMANS; INFANT; INTRONS; IRON-BINDING PROTEINS; MALE; MIDDLE AGED; MUSCULOSKELETAL DISEASES; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); PROPRIOCEPTION; TRINUCLEOTIDE REPEAT EXPANSION; URINARY BLADDER DISEASES; WHEELCHAIRS;

ATAXIA;

EID: 0032756146     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19991119)87:2<168::AID-AJMG8>3.0.CO;2-2     Document Type: Article

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