Limited somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions identified by small pool PCR in blood leukocytes

Acta Neurologica Scandinavica

Volumn 103, Issue 3, 2001, Pages 188-192

  Hellenbroich, Y ^a   Schwinger, E ^a   Zuhlke Ch ^a,b  

^a UNIVERSITY OF LÜBECK   (Germany)

^b Institut fur Humangenetik   (Germany)

Author keywords

Friedreich's ataxia; Mosaicism; Small pool PCR; Trinucleotide repeats

Indexed keywords

ADULT; ALLELE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; FRIEDREICH ATAXIA; GENOTYPE; HUMAN; INTRON; MOSAICISM; PHENOTYPE; POLYMERASE CHAIN REACTION; PROGNOSIS; SOUTHERN BLOTTING; TRINUCLEOTIDE REPEAT;

ADOLESCENT; ADULT; ALLELES; BLOTTING, SOUTHERN; CHILD; FEMALE; FRIEDREICH ATAXIA; GENOTYPE; HUMANS; IN SITU HYBRIDIZATION; LEUKOCYTES; MALE; MOSAICISM; PHENOTYPE; POLYMERASE CHAIN REACTION; PROGNOSIS; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 0035135490     PISSN: 00016314     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1600-0404.2001.103003188.x     Document Type: Article

References (16)

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4. Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin
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11. Somatic sequence variation at the Friedreich ataxia locus includes complete contraction of the expanded GAA triplet repeat, significant length variation in serially passaged lymphoblasts and enhanced mutagenesis in the flanking sequence
12. Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: Small pool PCR analyses
13. Rapid detection of expansions by PCR and nonradioactive hybridization: Application for prenatal diagnosis of myotonic dystrophy
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15. Very late onset Friedreich's ataxia without cardiomyopathy is associated with limited GAA expansion in the X25 gene
16. Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia