The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia

American Journal of Human Genetics

Volumn 59, Issue 3, 1996, Pages 554-560

  Filla, Alessandro ^a   De Michele, Giuseppe ^a   Cavalcanti, Francesca ^a,b   Pianese, Luigi ^a,b   Monticelli, Antonella ^a   Campanella, Giuseppe ^a   Cocozza, Sergio ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b Mediterranean Inst of Neurosciences   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

TRINUCLEOTIDE;

ADULT; AGED; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CARDIOMYOPATHY; DIABETES MELLITUS; FRIEDREICH ATAXIA; HETEROZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; INTRON; MAJOR CLINICAL STUDY; MEIOSIS; MOSAICISM; NUCLEOTIDE REPEAT; POINT MUTATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AGE OF ONSET; BASE SEQUENCE; CARDIOMYOPATHY, HYPERTROPHIC; CHILD; CHILD, PRESCHOOL; DIABETES COMPLICATIONS; DIABETES MELLITUS; DISEASE PROGRESSION; FRIEDREICH ATAXIA; GENE FREQUENCY; GENOTYPE; HUMANS; ITALY; MOLECULAR SEQUENCE DATA; PHENOTYPE; POINT MUTATION; TRINUCLEOTIDE REPEATS; WHEELCHAIRS;

ATAXIA;

EID: 0029757676     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

1. Bates G, Lehrach H (1994) Trinucleotide repeat expansions and human genetic disease. Bioassays 16:277-284
2. Campuzano V, Montermini L, Moltò MD, Pianese L, Cossèe M, Cavalcanti F, Monròs E, et al (1996) Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271:1423-1427
3. Chamberlain S, Shaw J, Rowland A, Wallis J, South S, Nakamura Y, von Gabain A, et al (1988) Mapping of the mutation causing Friedreich's ataxia to human chromosome 9. Nature 334:248-250
4. Chamberlain S, Shaw J, Wallis J, Rowland A, Chow L, Farrall M, Keats B, et al (1989) Genetic homogeneity at the Friedreich ataxia locus on chromosome 9. Am J Hum Genet 44: 518-521
5. De Michele G, Filla A, Barbieri F, Perretti A, Santoro L, Trombetta L, Santorelli F, et al (1989) Late onset recessive ataxia with Friedreich's disease phenotype. J Neurol Neurosurg Psychiatry 52:1398-401