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Volumn 69, Issue 4, 1997, Pages 380-382

Analysis of 16 cystic fibrosis mutations in Mexican patients

Author keywords

CFTR mutations; cystic fibrosis; genetic diagnosis; Mexican CF patients

Indexed keywords

ARTICLE; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; CONTROLLED STUDY; CYSTIC FIBROSIS; GENE DELETION; HUMAN; MEXICO; MUTATION RATE; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL;

EID: 0030980906     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19970414)69:4<380::AID-AJMG8>3.0.CO;2-P     Document Type: Article
Times cited : (10)

References (20)
  • 2
    • 0026566043 scopus 로고
    • Detection of multiple cystic fibrosis mutations by reverse dot blot hybridization: A technology for carrier screening
    • Chehab FF, Wall J (1992): Detection of multiple cystic fibrosis mutations by reverse dot blot hybridization: A technology for carrier screening. Hum Genet 89:163-168.
    • (1992) Hum Genet , vol.89 , pp. 163-168
    • Chehab, F.F.1    Wall, J.2
  • 4
    • 0028033069 scopus 로고
    • Population variation of common cystic fibrosis mutations
    • Cystic Fibrosis Genetic Analysis Consortium (1994): Population variation of common cystic fibrosis mutations. Hum Mutat 4:167-177.
    • (1994) Hum Mutat , vol.4 , pp. 167-177
  • 6
    • 0026713048 scopus 로고
    • Birth of a normal girl after in vitro fertilization and preimplantation diagnostic testing for cystic fibrosis
    • Handyside AH, Winston RM (1992): Birth of a normal girl after in vitro fertilization and preimplantation diagnostic testing for cystic fibrosis. N Engl J Med 327:905-909.
    • (1992) N Engl J Med , vol.327 , pp. 905-909
    • Handyside, A.H.1    Winston, R.M.2
  • 8
    • 0026019534 scopus 로고
    • Severity of cystic fibrosis in patients homozygous and heterozygous for ΔF508 mutation
    • Johansen HK, Nir M, Høiby N, Koch C, Schwartz M (1991): Severity of cystic fibrosis in patients homozygous and heterozygous for ΔF508 mutation. Lancet 337:631-634.
    • (1991) Lancet , vol.337 , pp. 631-634
    • Johansen, H.K.1    Nir, M.2    Høiby, N.3    Koch, C.4    Schwartz, M.5
  • 10
    • 0025241696 scopus 로고
    • The relation between genotype and phenotype in cystic fibrosis: Analysis of the most common mutation (ΔF508)
    • Kerem E, Corey M, Kerem B, Rommens J, Markiewicz D, Levinson H, Tsui L-C, Durie P (1990): The relation between genotype and phenotype in cystic fibrosis: Analysis of the most common mutation (ΔF508). N Engl J Med 323:1517-1522.
    • (1990) N Engl J Med , vol.323 , pp. 1517-1522
    • Kerem, E.1    Corey, M.2    Kerem, B.3    Rommens, J.4    Markiewicz, D.5    Levinson, H.6    Tsui, L.-C.7    Durie, P.8
  • 17
    • 0001442557 scopus 로고
    • Genetic analysis of amplified DNA with inmobilized sequence-specific oligonucleotide probes
    • Saiki RK, Walsh PS, Levenson CH, Erlich HA (1989): Genetic analysis of amplified DNA with inmobilized sequence-specific oligonucleotide probes. Proc Natl Acad Sci USA 86:6230-6234.
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 6230-6234
    • Saiki, R.K.1    Walsh, P.S.2    Levenson, C.H.3    Erlich, H.A.4
  • 19
    • 0027411121 scopus 로고
    • Efficient 12-mutation testing in the CFTR gene: A general model for complex mutation analysis
    • Shuber AP, Skoletsky J, Stern R, Handelin BL (1993): Efficient 12-mutation testing in the CFTR gene: A general model for complex mutation analysis. Hum Mol Genet 2:153-158.
    • (1993) Hum Mol Genet , vol.2 , pp. 153-158
    • Shuber, A.P.1    Skoletsky, J.2    Stern, R.3    Handelin, B.L.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.