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Volumn 3, Issue 5, 2001, Pages 335-342

Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy

Author keywords

Direct sequencing; Genetic heterogeneity; Heteroduplex analysis; Inherited neuropathy; Mutation scanning

Indexed keywords

ARTICLE; AUTOMATION; CHROMOSOME VARIANT; CLINICAL TRIAL; COMPARATIVE STUDY; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DIAGNOSTIC ACCURACY; DIAGNOSTIC PROCEDURE; DNA SEQUENCE; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC HETEROGENEITY; GENETIC SCREENING; HEREDITARY MOTOR SENSORY NEUROPATHY; HETERODUPLEX ANALYSIS; HUMAN; MAJOR CLINICAL STUDY; SENSITIVITY AND SPECIFICITY;

EID: 0035746670     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/00125817-200109000-00002     Document Type: Article
Times cited : (31)

References (20)
  • 5
    • 0031822951 scopus 로고    scopus 로고
    • Molecular genetics of human retinal dystrophies
    • (1998) Eye , vol.12 , pp. 571-579
    • Inglehearn, C.F.1
  • 14
    • 0003391162 scopus 로고    scopus 로고
    • DNA mutation detection using denaturing high-performance liquid chromatography (DHPLC)
    • In: Dracopoli NC, Haines JL, Korf BR, Moir DT, Morton CC, Seidman CE, Seidman JG, Smith DR, editors; New York: Wiley & Sons, Supplement
    • (1998) Current Protocols in Hum Genet , vol.19
    • Oefner, P.J.1    Underhill, P.A.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.