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Volumn 28, Issue 1, 1999, Pages 60-63

Clinical and genetic implications of dynamic mutations in neuropediatrics practice;Implicaciones clinicas y geneticas de las mutaciones dinamicas en clinica neuropediatrica

Author keywords

Dynamic mutations; Genetic anticipation; Polyglutamine disorders; Unstable sequences

Indexed keywords

FRIEDREICH ATAXIA; GENE MUTATION; GENE SEQUENCE; HUMAN; HUNTINGTON CHOREA; MENTAL DEFICIENCY; MICROSATELLITE INSTABILITY; MYOTONIC DYSTROPHY; REVIEW; SEQUENCE ANALYSIS; TRINUCLEOTIDE REPEAT; CHILD; CHROMOSOME ABERRATION; CHROMOSOME DISORDER; FRAGILE X SYNDROME; GENETICS; NEUROLOGY; PEDIATRICS; POINT MUTATION;

EID: 0033556482     PISSN: 02100010     EISSN: None     Source Type: Journal    
DOI: 10.33588/rn.2801.98350     Document Type: Review
Times cited : (5)

References (4)
  • 1
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    • Trinucleotide diseases on therise
    • Mandel JL. Trinucleotide diseases on therise. Nat Genet 1994; 7: 453-5.
    • (1994) Nat Genet , vol.7 , pp. 453-455
    • Mandel, J.L.1
  • 2
    • 17344371397 scopus 로고    scopus 로고
    • Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy
    • Brais B, Bouchard JP, Xie Y, Rochefort D, Chretien N, Tome F, et al. Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nat Genet 1998; 18: 164-7.
    • (1998) Nat Genet , vol.18 , pp. 164-167
    • Brais, B.1    Bouchard, J.P.2    Xie, Y.3    Rochefort, D.4    Chretien, N.5    Tome, F.6
  • 3
    • 0027996828 scopus 로고
    • Dynamic mutations hit double figures
    • Willems PJ. Dynamic mutations hit double figures. Nat Genet 1994; 8: 213-5.
    • (1994) Nat Genet , vol.8 , pp. 213-215
    • Willems, P.J.1
  • 4
    • 0029298231 scopus 로고
    • Gain of glutamines gain of function?
    • Housman D. Gain of glutamines gain of function? Nat Genet 1995; 10: 2-4.
    • (1995) Nat Genet , vol.10 , pp. 2-4
    • Housman, D.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.