메뉴 건너뛰기




Volumn 107, Issue 2, 2001, Pages 280-286

Comprehensive mutation screening in a cystic fibrosis center

Author keywords

Alleles; CFTR; Heteroduplex analysis; SSCP

Indexed keywords

ALLELE; ARTICLE; COST EFFECTIVENESS ANALYSIS; CYSTIC FIBROSIS; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NONSENSE MUTATION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; SWEAT TEST;

EID: 0035143990     PISSN: 00314005     EISSN: None     Source Type: Journal    
DOI: 10.1542/peds.107.2.280     Document Type: Article
Times cited : (25)

References (29)
  • 10
    • 16944363988 scopus 로고    scopus 로고
    • Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in the CFTR gene
    • (1997) Hum Mutat , vol.9 , pp. 136-147
    • Macek M., Jr.1    Mercier, B.2    Mackova, A.3
  • 17
    • 0028902949 scopus 로고
    • A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+l.6kbA->G, produces a new exon: High frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype
    • (1995) Am J Hum Genet , vol.56 , pp. 623-629
    • Chillon, M.1    Dork, T.2    Casals, T.3
  • 18
    • 0032518518 scopus 로고    scopus 로고
    • Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation
    • (1998) J Clin Invest , vol.101 , pp. 487-496
    • Cuppens, H.1    Lin, W.2    Jaspers, M.3
  • 20
    • 0027162649 scopus 로고
    • Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis
    • (1993) Cell , vol.73 , pp. 1251-1254
    • Welsh, M.J.1    Smith, A.E.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.