메뉴 건너뛰기




Volumn 65, Issue 4, 2004, Pages 284-287

Novel CFTR mutations in black cystic fibrosis patients

Author keywords

Black populations; CFTR; Cystic fibrosis

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 1842477279     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2004.00230.x     Document Type: Article
Times cited : (16)

References (24)
  • 1
    • 19244364425 scopus 로고    scopus 로고
    • First report of CFTR mutations in black cystic fibrosis patients of southern African origin
    • Carles S, Desgeorges M, Goldman A et al. First report of CFTR mutations in black cystic fibrosis patients of southern African origin. J Med Genet 1996: 33: 802-804.
    • (1996) J. Med. Genet. , vol.33 , pp. 802-804
    • Carles, S.1    Desgeorges, M.2    Goldman, A.3
  • 2
    • 0032929774 scopus 로고    scopus 로고
    • Cystic fibrosis carrier frequencies in populations of African origin
    • Padoa C, Goldman A, Jenkins T, Ramsay M. Cystic fibrosis carrier frequencies in populations of African origin. J Med Genet 1999: 36: 41-44.
    • (1999) J. Med. Genet. , vol.36 , pp. 41-44
    • Padoa, C.1    Goldman, A.2    Jenkins, T.3    Ramsay, M.4
  • 3
    • 0031900652 scopus 로고    scopus 로고
    • The diagnosis of cystic fibrosis: A consensus statement
    • Rosenstein BJ, Cutting GR. The diagnosis of cystic fibrosis: a consensus statement. J Pediatr 1998: 132: 589-595.
    • (1998) J. Pediatr. , vol.132 , pp. 589-595
    • Rosenstein, B.J.1    Cutting, G.R.2
  • 4
    • 0028575719 scopus 로고
    • Analysis of 40 known cystic fibrosis mutations in South African patients
    • Goldman A, Jenkins T, Ramsay M. Analysis of 40 known cystic fibrosis mutations in South African patients. Clin Genet 1994: 46: 398-400.
    • (1994) Clin. Genet. , vol.46 , pp. 398-400
    • Goldman, A.1    Jenkins, T.2    Ramsay, M.3
  • 5
    • 0035169491 scopus 로고    scopus 로고
    • The molecular basis of cystic fibrosis in South Africa
    • Goldman A, Labrum R, Claustres M et al. The molecular basis of cystic fibrosis in South Africa. Clin Genet 2001: 59: 37-41.
    • (2001) Clin. Genet. , vol.59 , pp. 37-41
    • Goldman, A.1    Labrum, R.2    Claustres, M.3
  • 6
    • 0027207990 scopus 로고
    • An African-American cystic fibrosis patient homozygous for a novel frameshift mutation associated with reduced CFTR mRNA levels
    • Smit LS, Nasr SZ, Iannuzzi MC, Collins FS. An African-American cystic fibrosis patient homozygous for a novel frameshift mutation associated with reduced CFTR mRNA levels. Hum Mutat 1993: 2: 148-151.
    • (1993) Hum. Mutat. , vol.2 , pp. 148-151
    • Smit, L.S.1    Nasr, S.Z.2    Iannuzzi, M.C.3    Collins, F.S.4
  • 7
    • 16944366526 scopus 로고    scopus 로고
    • Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%
    • Macek M, Mackova A, Hamosh A et al. Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%. Am J Hum Genet 1997: 60: 1122-1127.
    • (1997) Am. J. Hum. Genet. , vol.60 , pp. 1122-1127
    • Macek, M.1    Mackova, A.2    Hamosh, A.3
  • 8
    • 0026780584 scopus 로고
    • Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of whole cystic fibrosis transmembrane conductance regulator (CFTR) coding regions and splice site junction
    • Fanen P, Ghanem N, Vidaud M et al. Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of whole cystic fibrosis transmembrane conductance regulator (CFTR) coding regions and splice site junction. Genomics 1992: 132: 770-776.
    • (1992) Genomics , vol.132 , pp. 770-776
    • Fanen, P.1    Ghanem, N.2    Vidaud, M.3
  • 9
  • 10
    • 0028086056 scopus 로고
    • A novel mutation in cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentration
    • Highsmith WE, Burch LH, Zhou Z et al. A novel mutation in cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentration. N Engl J Med 1994: 331: 974-980.
    • (1994) N. Engl. J. Med. , vol.331 , pp. 974-980
    • Highsmith, W.E.1    Burch, L.H.2    Zhou, Z.3
  • 11
    • 0031612929 scopus 로고    scopus 로고
    • Recommendations for a nomenclature system for human gene mutations
    • The Nomenclature Working Group
    • Antonarakis SE, The Nomenclature Working Group. Recommendations for a nomenclature system for human gene mutations. Hum Mutat 1998: 11: 1-3.
    • (1998) Hum. Mutat. , vol.11 , pp. 1-3
    • Antonarakis, S.E.1
  • 12
    • 0036258208 scopus 로고    scopus 로고
    • Cystic fibrosis: Worldwide analysis of CFTR mutations - Correlation with the incidence data and application to screening
    • Bobadilla JL, Macek M, Fine JP, Farrell PM. Cystic fibrosis: worldwide analysis of CFTR mutations - Correlation with the incidence data and application to screening. Hum Mutat 2002: 19: 575-606.
    • (2002) Hum. Mutat. , vol.19 , pp. 575-606
    • Bobadilla, J.L.1    Macek, M.2    Fine, J.P.3    Farrell, P.M.4
  • 13
    • 0035227138 scopus 로고    scopus 로고
    • A novel 3600 + 11.5kbC > G homozygous splicing mutation in a black African, consanguineous CF family
    • Monnier N, Gout JP, Pin I, Gauthier G, Lunardi J. A novel 3600 + 11.5kbC > G homozygous splicing mutation in a black African, consanguineous CF family. J Med Genet 2001: 38 (1): E4.
    • (2001) J. Med. Genet. , vol.38 , Issue.1
    • Monnier, N.1    Gout, J.P.2    Pin, I.3    Gauthier, G.4    Lunardi, J.5
  • 14
    • 0032231388 scopus 로고    scopus 로고
    • Evidence for a common ethnic origin of cystic fibrosis mutation 3120 + 1G > A in diverse populations
    • Dörk T, El-Harith A, Stuhrmann M et al. Evidence for a common ethnic origin of cystic fibrosis mutation 3120 + 1G > A in diverse populations. Am J Hum Genet 1998: 63: 656-662.
    • (1998) Am. J. Hum. Genet. , vol.63 , pp. 656-662
    • Dörk, T.1    El-Harith, A.2    Stuhrmann, M.3
  • 15
    • 0025775435 scopus 로고
    • Discrimination between recurrent mutation and identity by descent: Application to point mutations in exon 11 of the cystic fibrosis (CFTR) gene
    • Reiss J, Cooper DN, Bal J, Slomski R, Cutting GR, Krawczak M. Discrimination between recurrent mutation and identity by descent: application to point mutations in exon 11 of the cystic fibrosis (CFTR) gene. Hum Genet 1991: 87: 457-461.
    • (1991) Hum. Genet. , vol.87 , pp. 457-461
    • Reiss, J.1    Cooper, D.N.2    Bal, J.3    Slomski, R.4    Cutting, G.R.5    Krawczak, M.6
  • 16
    • 1842407140 scopus 로고    scopus 로고
    • Cystic fibrosis in Lebanon: Distribution of CFTR mutations among Arab communities
    • Desgeorges M, Mégarbané A, Guittard C et al. Cystic fibrosis in Lebanon: Distribution of CFTR mutations among Arab communities. Hum Genet 1997: 100: 279-283.
    • (1997) Hum. Genet. , vol.100 , pp. 279-283
    • Desgeorges, M.1    Mégarbané, A.2    Guittard, C.3
  • 18
    • 0032618308 scopus 로고    scopus 로고
    • A large deletion mutation in the CFTR gene (3121 + 1kbde18,6kb): A founder mutation in the Palestinian Arabs
    • Lerer I, Laufer-Cahana A, Rivlin JR, Augarten A, Abeliovitch D. A large deletion mutation in the CFTR gene (3121 + 1kbde18,6kb): A founder mutation in the Palestinian Arabs. Hum Mutat (Online) 1999: 13 (4): 337.
    • (1999) Hum. Mutat. (Online) , vol.13 , Issue.4 , pp. 337
    • Lerer, I.1    Laufer-Cahana, A.2    Rivlin, J.R.3    Augarten, A.4    Abeliovitch, D.5
  • 19
    • 0025855807 scopus 로고
    • Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444delA), an Italian (CF2522insC), and a Soviet (CFR3821delT)
    • White MB, Krueger LJ, Holsclaw Jr DS et al. Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444delA), an Italian (CF2522insC), and a Soviet (CFR3821delT). Genomics 1991: 10: 266-269.
    • (1991) Genomics , vol.10 , pp. 266-269
    • White, M.B.1    Krueger, L.J.2    Holsclaw Jr., D.S.3
  • 20
    • 0031939729 scopus 로고    scopus 로고
    • Cystic fibrosis transmembrane conductance regulator mutations among African-Americans
    • Friedman KJ, Leigh MW, Czarnecki P, Feldman GL. Cystic fibrosis transmembrane conductance regulator mutations among African-Americans. Am J Hum Genet 1998: 62: 195-196.
    • (1998) Am. J. Hum. Genet. , vol.62 , pp. 195-196
    • Friedman, K.J.1    Leigh, M.W.2    Czarnecki, P.3    Feldman, G.L.4
  • 21
    • 0027207990 scopus 로고
    • An African-American cystic fibrosis patient homozygous for a novel frameshift mutation associated with reduced CFTR mRNA levels
    • Smit LS, Nasr SZ, Iannuzzi MC, Collins FS. An African-American cystic fibrosis patient homozygous for a novel frameshift mutation associated with reduced CFTR mRNA levels. Hum Mutat 1993: 2: 148-151.
    • (1993) Hum. Mutat. , vol.2 , pp. 148-151
    • Smit, L.S.1    Nasr, S.Z.2    Iannuzzi, M.C.3    Collins, F.S.4
  • 22
    • 0025310336 scopus 로고
    • A cluster of cystic fibrosis mutations in the first nucleotide binding domain of CFTR protein
    • Cutting GR, Kasch LM, Rosenstein BJ et al. A cluster of cystic fibrosis mutations in the first nucleotide binding domain of CFTR protein. Nature 1990: 346: 366-369.
    • (1990) Nature , vol.346 , pp. 366-369
    • Cutting, G.R.1    Kasch, L.M.2    Rosenstein, B.J.3
  • 24
    • 1842447451 scopus 로고    scopus 로고
    • A novel missense mutation, R1283S, of the cystic fibrosis transmembrane conductance regulator gene in a 47-year-old African-American patient
    • Wang YL, Chen KL, Joshi II, Kotloff RM, Leonard DG, Wilson RB. A novel missense mutation, R1283S, of the cystic fibrosis transmembrane conductance regulator gene in a 47-year-old African-American patient. Mol Diagn 1997: 2: 205-208.
    • (1997) Mol. Diagn. , vol.2 , pp. 205-208
    • Wang, Y.L.1    Chen, K.L.2    Joshi, I.I.3    Kotloff, R.M.4    Leonard, D.G.5    Wilson, R.B.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.