메뉴 건너뛰기




Volumn 78, Issue 4, 2003, Pages 259-264

CFTR gene: Molecular analysis in patients from South Brazil

Author keywords

CFTR gene; Cystic fibrosis; Molecular analysis; Mutations; South Brazil

Indexed keywords

NUCLEOTIDE BINDING PROTEIN; RESTRICTION ENDONUCLEASE; TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 0037385203     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1096-7192(03)00033-7     Document Type: Article
Times cited : (26)

References (32)
  • 11
    • 0029130343 scopus 로고
    • The impact of newborn screening on cystic fibrosis testing in Victoria, Australia
    • Balnaves M.E., Bonacquisto L., Francis I., Glazner J., Forrest S. The impact of newborn screening on cystic fibrosis testing in Victoria, Australia. J. Med. Genet. 32:1995;537-542.
    • (1995) J. Med. Genet. , vol.32 , pp. 537-542
    • Balnaves, M.E.1    Bonacquisto, L.2    Francis, I.3    Glazner, J.4    Forrest, S.5
  • 12
    • 0024284028 scopus 로고
    • A simple salting-out procedure for extracting DNA from human nucleated cells
    • Miller A.S. A simple salting-out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16:1988;1215.
    • (1988) Nucleic Acids Res. , vol.16 , pp. 1215
    • Miller, A.S.1
  • 14
    • 0025801372 scopus 로고
    • The incidence of the different cystic fibrosis mutations in the Scottish population: Effects on prenatal diagnosis and genetic counseling
    • Shrimpton A.E., McIntish I., Brock D.J.H. The incidence of the different cystic fibrosis mutations in the Scottish population: effects on prenatal diagnosis and genetic counseling. J. Med. Genet. 28:1991;317-322.
    • (1991) J. Med. Genet. , vol.28 , pp. 317-322
    • Shrimpton, A.E.1    McIntish, I.2    Brock, D.J.H.3
  • 15
    • 0024595101 scopus 로고
    • Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
    • Orita M., Iwahana H., Kanazawa H., Hayashi K., Sekiya T. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc. Natl. Acad. Sci. USA. 86:1989;2766-2770.
    • (1989) Proc. Natl. Acad. Sci. USA , vol.86 , pp. 2766-2770
    • Orita, M.1    Iwahana, H.2    Kanazawa, H.3    Hayashi, K.4    Sekiya, T.5
  • 16
    • 0024756969 scopus 로고
    • Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
    • Orita M., Suzuky Y., Sekiya T., Hayashi K. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics. 5:1989;874-879.
    • (1989) Genomics , vol.5 , pp. 874-879
    • Orita, M.1    Suzuky, Y.2    Sekiya, T.3    Hayashi, K.4
  • 19
    • 0025310336 scopus 로고
    • A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis condutance regulator protein
    • Cutting G.R., Kash L.M., Rosenstein B.J., Zielenski J., Tsui L.-C., Antonarakis S.E., Kazazian H.H. Jr. A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis condutance regulator protein. Nature. 346:1990;366-369.
    • (1990) Nature , vol.346 , pp. 366-369
    • Cutting, G.R.1    Kash, L.M.2    Rosenstein, B.J.3    Zielenski, J.4    Tsui, L.-C.5    Antonarakis, S.E.6    Kazazian H.H., Jr.7
  • 22
    • 0026503640 scopus 로고
    • Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish Cystic Fibrosis patients in Israel, with presentation of severe disease
    • Soshani T., Augarten A., Gazit E., Bashan N., Yahav Y., Rivlin Y., Tal A., Seret H., Yaar l., Kerem E., Kerem B.-S. Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish Cystic Fibrosis patients in Israel, with presentation of severe disease. Am J. Hum. Genet. 50:1992;222-228.
    • (1992) Am J. Hum. Genet. , vol.50 , pp. 222-228
    • Soshani, T.1    Augarten, A.2    Gazit, E.3    Bashan, N.4    Yahav, Y.5    Rivlin, Y.6    Tal, A.7    Seret, H.8    Yaar, l.9    Kerem, E.10    Kerem, B.-S.11
  • 26
    • 0030754623 scopus 로고    scopus 로고
    • Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations
    • X. Estivill, C. Bancells, C. Ramos, and Biomed CF Mutation Analysis Consortium, Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations, Hum. Mutat. 10 (1997) 135-154.
    • (1997) Hum. Mutat. , vol.10 , pp. 135-154
    • Estivill, X.1    Bancells, C.2    Ramos, C.3
  • 27
    • 0032039748 scopus 로고    scopus 로고
    • Analysis of the ΔF508 mutation in Brazilian cystic fibrosis population: Comparison of pulmonary status of homozygotes with other patients
    • Maróstica P.J., Raskin S., Abreu F.A. Analysis of the ΔF508 mutation in Brazilian cystic fibrosis population: comparison of pulmonary status of homozygotes with other patients. Braz. J. Med. Biol. Res. 31:1998;529-532.
    • (1998) Braz. J. Med. Biol. Res. , vol.31 , pp. 529-532
    • Maróstica, P.J.1    Raskin, S.2    Abreu, F.A.3
  • 31
    • 0034743399 scopus 로고    scopus 로고
    • The 3120+1G > A splicing mutation in CFTR is common in Brazilian cystic fibrosis patients
    • Cabello G.M., Cabello E.H., Llerena J. Jr., Fernande O., Harris A. The 3120+1G. > A splicing mutation in CFTR is common in Brazilian cystic fibrosis patients Hum. Biol. 73:2001;403-409.
    • (2001) Hum. Biol. , vol.73 , pp. 403-409
    • Cabello, G.M.1    Cabello, E.H.2    Llerena J., Jr.3    Fernande, O.4    Harris, A.5
  • 32
    • 0027674061 scopus 로고
    • Frequency of the cystic fibrosis ΔF508 mutation in a population from São Paulo state
    • Martins C.S., Ribeiro F., Costa F.F. Frequency of the cystic fibrosis ΔF508 mutation in a population from São Paulo state. Braz. J. Med. Biol. Res. 26:1993;1037-1040.
    • (1993) Braz. J. Med. Biol. Res. , vol.26 , pp. 1037-1040
    • Martins, C.S.1    Ribeiro, F.2    Costa, F.F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.