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Volumn 108, Issue 5, 2001, Pages 505-509

Wide scope prenatal diagnosis at Kuopio University Hospital 1997-1998: Integration of gene tests and fetal karyotyping

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; ASPARTYLGLYCOSAMINURIA; CHROMOSOME MUTATION; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; FEASIBILITY STUDY; FEMALE; FETUS; FETUS KARYOTYPING; FRAGILE X SYNDROME; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC SCREENING; GENOTYPE; HETEROZYGOTE; HOSPITAL; HUMAN; MAJOR CLINICAL STUDY; NEURONAL CEROID LIPOFUSCINOSIS; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RANDOMIZED CONTROLLED TRIAL;

EID: 0034964308     PISSN: 03065456     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0306-5456(00)00118-2     Document Type: Article
Times cited : (7)

References (23)
  • 3
    • 0002905875 scopus 로고
    • Large quantities of 2-acetamido-1-(beta-L-aspartamido)-1,2-dideoxyglucose in the urine of mentally retarded siblings
    • (1967) Biochem J , vol.103 , pp. 48-49
    • Jenner, F.A.1    Pollitt, R.J.2
  • 5
    • 0026345716 scopus 로고
    • Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
    • (1991) Cell , vol.20 , pp. 1047-1058
    • Fu, Y.H.1    Kuhl, D.P.2    Pizzutti, A.3
  • 11
    • 0026089364 scopus 로고
    • Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease
    • (1991) EMBO J , vol.10 , pp. 51-58
    • Ikonen, E.1    Baumann, M.2    Gron, K.3
  • 19
    • 0026578477 scopus 로고
    • Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: Application to aspartyl-glucosaminuria in Finland
    • (1992) Genomics , vol.12 , pp. 590-595
    • Syvänen, A.C.1    Ikonen, E.2    Manninen, T.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.