메뉴 건너뛰기




Volumn 19, Issue 1, 2002, Pages 58-68

Quantification of single nucleotide polymorphisms: A novel method that combines primer extension assay and capillary electrophoresis

Author keywords

COL5A1; CYBB; FBNI; HBB; Laser induced fluorescence capillary electrophoresis (LIF CE); Single nucleotide primer extension (SNuPE); SNP quantification

Indexed keywords

NUCLEOTIDE; PRIMER DNA;

EID: 0036135704     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10013     Document Type: Article
Times cited : (39)

References (47)
  • 1
    • 0031612929 scopus 로고    scopus 로고
    • Recommendations for a nomenclature system for human gene mutations
    • Nomenclature Working Group
    • (1998) Hum Mutat , vol.11 , pp. 1-3
    • Antonarakis, S.E.1
  • 8
    • 0033988509 scopus 로고    scopus 로고
    • Compound heterozygosity for a disease-causing G1489D and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: An explanation of intrafamilial variability?
    • (2000) Am J Med Genet , vol.90 , pp. 72-79
    • Giunta, C.1    Steinmann, B.2
  • 14
    • 0033786787 scopus 로고    scopus 로고
    • Linkage disequilibrium and the search for complex disease genes
    • (2000) Genome Res , vol.10 , pp. 1435-1444
    • Jorde, L.B.1
  • 20
  • 29
    • 0028183399 scopus 로고
    • The genetic basis of chronic granulomatous disease
    • (1994) Immunol Rev , vol.138 , pp. 121-157
    • Roos, D.1
  • 41
    • 0038217407 scopus 로고    scopus 로고
    • From gels to chips: "Minisequencing" primer extension for analysis of point mutations and single nucleotide polymorphisms
    • (1999) Hum Mutat , vol.13 , pp. 1-10
    • Syvänen, A.C.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.