메뉴 건너뛰기




Volumn 17, Issue 6, 2001, Pages 1195-1200

Intron-8 polythymidine sequence in Australasian individuals with CF mutations R117H and R117C

Author keywords

Cystic fibrosis; Genotype; Phenotype; R117H

Indexed keywords

CHLORIDE; ELECTROLYTE; THYMIDINE; TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 0034894085     PISSN: 09031936     EISSN: None     Source Type: Journal    
DOI: 10.1183/09031936.01.00057001     Document Type: Article
Times cited : (82)

References (20)
  • 2
    • 0027517995 scopus 로고
    • Correlation between genotype and phenotype in patients with cystic fibrosis
    • The Cystic Fibrosis Genotype-Phenotype Consortium.
    • (1993) N Engl J Med , vol.329 , pp. 1308-1313
  • 4
    • 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
  • 6
    • 0025906695 scopus 로고
    • Variable deletion of exon 9 coding sequences in cystic fibrosis transmembrane conductance regulator gene mRNA transcripts in normal bronchial epithelium
    • (1991) EMBOJ , vol.10 , pp. 1355-1363
    • Chu, C.-S.1    Trapnell2    Murtagh, J.J.3
  • 9
    • 0025312731 scopus 로고
    • Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients
    • (1990) Cell , vol.61 , pp. 863-870
    • Dean, M.1    White, M.B.2    Amos, J.3
  • 12
    • 0027995653 scopus 로고
    • Neonatal screening strategy for cystic fibrosis using immunoreactive trypsinogen and direct gene analysis: Four years experience
    • (1994) BMJ , vol.308 , pp. 1469-1472
    • Ranieri, E.1    Ryall, R.G.2    Morris, C.P.3
  • 13
    • 0033842814 scopus 로고    scopus 로고
    • Pancreatic function and extended mutation analysis in ΔF508 heterozygous infants with an elevated immunoreactive trypsinogen but normal sweat electrolyte levels
    • (2000) J Pediatr , vol.137 , pp. 214-220
    • Massie, R.J.1    Wilcken, B.2    Van Asperan, P.3
  • 17
    • 0000017530 scopus 로고
    • A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilising pilocarpine by iontophoresis
    • (1959) Pediatrics , vol.23 , pp. 158-161
    • Gibson, L.E.1    Cooke, R.E.2
  • 18
  • 19
    • 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 polymorphisms as a disease mutation
    • (1998) J Clin Invest , vol.101 , pp. 487-496
    • Cuppens, H.1    Lin, W.2    Jaspers, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.