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Volumn 5, Issue 6, 1999, Pages 1230-1235

Geographic distribution of Cystic Fibrosis Transmembrane Regulator gene mutations in Saudi Arabia

Author keywords

[No Author keywords available]

Indexed keywords

CFTR PROTEIN, HUMAN; TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 0033232142     PISSN: 10203397     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (17)

References (16)
  • 1
    • 0024548558 scopus 로고
    • Cystic fibrosis in Saudi Arabia
    • Nazer H et al. Cystic fibrosis in Saudi Arabia. European journal of pediatrics, 1989, 148:330-2.
    • (1989) European Journal of Pediatrics , vol.148 , pp. 330-332
    • Nazer, H.1
  • 2
    • 0028827548 scopus 로고
    • Cystic fibrosis in Saudi Arabia: Common and rare presentations
    • Al-Mobaireek K et al. Cystic fibrosis in Saudi Arabia: common and rare presentations. Annals of tropical pediatrics, 1995, 15:269-72.
    • (1995) Annals of Tropical Pediatrics , vol.15 , pp. 269-272
    • Al-Mobaireek, K.1
  • 3
    • 0006653204 scopus 로고    scopus 로고
    • Identification of two novel CFTR exonic deletions 425 del 42 and 1549 del G in CF patients by mutation detection enhancement (MDE) heteroduplex analysis: Possible founder effect associated with the 1540→G polymorphism
    • Kambouris MF et al. Identification of two novel CFTR exonic deletions 425 del 42 and 1549 del G in CF patients by mutation detection enhancement (MDE) heteroduplex analysis: possible founder effect associated with the 1540→G polymorphism. American journal of human genetics, 1996, 59(suppl.):2319.
    • (1996) American Journal of Human Genetics , vol.59 , Issue.SUPPL. , pp. 2319
    • Kambouris, M.F.1
  • 4
    • 0001702510 scopus 로고    scopus 로고
    • Resolution of homozygous sequence alterations in the CFTR gene by mutation detection enhancement (MDE). Analysis independent of heteroduplex formation reveals a novel mutation (548→T) that carries cystic fibrosis (CF) in homozygous patients
    • Meyer BF, Kambouris M. Resolution of homozygous sequence alterations in the CFTR gene by mutation detection enhancement (MDE). Analysis independent of heteroduplex formation reveals a novel mutation (548→T) that carries cystic fibrosis (CF) in homozygous patients. American journal of human genetics, 1996, 59(suppl.):2330.
    • (1996) American Journal of Human Genetics , vol.59 , Issue.SUPPL. , pp. 2330
    • Meyer, B.F.1    Kambouris, M.2
  • 5
    • 0030830668 scopus 로고    scopus 로고
    • Novel and characteristic CFTR mutations in Saudi Arab children with severe cystic fibrosis
    • El-Harith EA et al. Novel and characteristic CFTR mutations in Saudi Arab children with severe cystic fibrosis. Journal of medical genetics, 1997, 34:996-9.
    • (1997) Journal of Medical Genetics , vol.34 , pp. 996-999
    • El-Harith, E.A.1
  • 6
    • 0009107519 scopus 로고    scopus 로고
    • Identification of novel mutations in CFTR gene causing cystic fibrosis (CF) in Arab populations
    • Proceedings of the International Symposium on Recent Advances in Molecular Genetics of the Maghreb and Middle East populations, Tunisia, 16-20 December 1997
    • Kambouris M et al. Identification of novel mutations in CFTR gene causing cystic fibrosis (CF) in Arab populations In : Proceedings of the International Symposium on Recent Advances in Molecular Genetics of the Maghreb and Middle East populations, Tunisia, 16-20 December 1997. Archives de Institute Pasteur de Tunis, 1997, 74:93-4.
    • (1997) Archives de Institute Pasteur de Tunis , vol.74 , pp. 93-94
    • Kambouris, M.1
  • 9
    • 0025241696 scopus 로고
    • The relationship between genotype and phenotype in cystic fibrosis - Analysis of the most common mtation (ΔF508)
    • Kerem E et al. The relationship between genotype and phenotype in cystic fibrosis - analysis of the most common mtation (ΔF508). New England journal of medicine, 1990, 323:1517-22.
    • (1990) New England Journal of Medicine , vol.323 , pp. 1517-1522
    • Kerem, E.1
  • 10
    • 0027517995 scopus 로고
    • Correlation between genotype and phenotype in patients with cystic fibrosis
    • The Cystic Fibrosis Genotype-Phenotype Consortium. Correlation between genotype and phenotype in patients with cystic fibrosis. New England journal of medicine, 1993, 329:1308-13.
    • (1993) New England Journal of Medicine , vol.329 , pp. 1308-1313
  • 11
    • 0026793363 scopus 로고
    • Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene
    • Osborne L et al. Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene. Human genetics, 1992, 89:653-8.
    • (1992) Human Genetics , vol.89 , pp. 653-658
    • Osborne, L.1
  • 12
    • 0026779977 scopus 로고
    • Multiplex PCR amplification of three microsatellites within the CFTR gene
    • Morral N, Estivill X. Multiplex PCR amplification of three microsatellites within the CFTR gene. Genomics, 1992, 13: 1362-4.
    • (1992) Genomics , vol.13 , pp. 1362-1364
    • Morral, N.1    Estivill, X.2
  • 13
    • 1842407140 scopus 로고    scopus 로고
    • Cystic fibrosis in Lebanon: Distribution of CFTR mutations among Arab communities
    • Desgeorges M et al. Cystic fibrosis in Lebanon: distribution of CFTR mutations among Arab communities. Human genetics, 1997, 100:279-83.
    • (1997) Human Genetics , vol.100 , pp. 279-283
    • Desgeorges, M.1
  • 14
    • 0030830668 scopus 로고    scopus 로고
    • Novel and characteristic CFTR mutations in Saudi Arab children with severe cystic fibrosis
    • El-Harith EA et al. Novel and characteristic CFTR mutations in Saudi Arab children with severe cystic fibrosis. Journal of medical genetics, 1997, 34:996-9.
    • (1997) Journal of Medical Genetics , vol.34 , pp. 996-999
    • El-Harith, E.A.1
  • 15
    • 0001460374 scopus 로고
    • Cystic fibrosis in the United Arab Emirates. II. Molecular genetic analysis
    • Frossard PM et al. Cystic fibrosis in the United Arab Emirates. II. Molecular genetic analysis. Emirates medical journal, 1994, 12:249-54.
    • (1994) Emirates Medical Journal , vol.12 , pp. 249-254
    • Frossard, P.M.1
  • 16
    • 0027031899 scopus 로고
    • Screening for cystic fibrosis mutations in southern France: Identification of a frameshift mutation and two missense variations
    • Claustres M et al. Screening for cystic fibrosis mutations in southern France: identification of a frameshift mutation and two missense variations. Human mutation, 1992, 1:310-3.
    • (1992) Human Mutation , vol.1 , pp. 310-313
    • Claustres, M.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.