메뉴 건너뛰기




Volumn 46, Issue 11-12, 2008, Pages 847-856

Implication of the cystic fibrosis transmembrane conductance regulator gene in infertile family members of Indian CF patients

Author keywords

ARMS PCR; c.1521_1523delCTT mutation; CFTR gene; Cystic fibrosis; Genetic testing; Male infertility

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 55549101908     PISSN: 00062928     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10528-008-9199-x     Document Type: Article
Times cited : (7)

References (28)
  • 4
    • 55549084927 scopus 로고    scopus 로고
    • Cystic Fibrosis Genetic Analysis Consortium CFGAC.
    • Cystic Fibrosis Genetic Analysis Consortium (2007) CFGAC. http://www.genet.sickkids.on.ca/cftr/
    • (2007)
  • 6
    • 0025312731 scopus 로고
    • Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients
    • M Dean M White J Amos B Gerrard C Stewart KT Khaw M Leppert 1990 Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients Cell 61 863 870
    • (1990) Cell , vol.61 , pp. 863-870
    • Dean, M.1    White, M.2    Amos, J.3    Gerrard, B.4    Stewart, C.5    Khaw, K.T.6    Leppert, M.7
  • 8
    • 0026780584 scopus 로고
    • Molecular characterisation of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions
    • P Fanen N Ghanem M Vidaud C Besmond J Martin B Costes F Plassa M Goossens 1992 Molecular characterisation of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions Genomics 13 770 776
    • (1992) Genomics , vol.13 , pp. 770-776
    • Fanen, P.1    Ghanem, N.2    Vidaud, M.3    Besmond, C.4    Martin, J.5    Costes, B.6    Plassa, F.7    Goossens, M.8
  • 10
    • 0027384235 scopus 로고
    • Screening of 62 mutations in a cohort of cystic fibrosis patients from North Eastern Italy: Their consequence and clinical features of defined genotypes
    • P Gasparini C Marigo G Bisceglia E Nicolis L Zelante C Bombieri 1994 Screening of 62 mutations in a cohort of cystic fibrosis patients from North Eastern Italy: their consequence and clinical features of defined genotypes Hum Mutat 2 389 394
    • (1994) Hum Mutat , vol.2 , pp. 389-394
    • Gasparini, P.1    Marigo, C.2    Bisceglia, G.3    Nicolis, E.4    Zelante, L.5    Bombieri, C.6
  • 11
    • 0036896021 scopus 로고    scopus 로고
    • Rescuing protein conformation: Prospects for pharmacological therapy in cystic fibrosis
    • MS Gelman RR Kopito 2002 Rescuing protein conformation: prospects for pharmacological therapy in cystic fibrosis J Clin Invest 110 1591 1597
    • (2002) J Clin Invest , vol.110 , pp. 1591-1597
    • Gelman, M.S.1    Kopito, R.R.2
  • 12
    • 9244225677 scopus 로고
    • A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine by iontophoresis
    • LE Gibson RE Cooke 1959 A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine by iontophoresis Pediatrics 23 545 549
    • (1959) Pediatrics , vol.23 , pp. 545-549
    • Gibson, L.E.1    Cooke, R.E.2
  • 13
    • 0028198386 scopus 로고
    • Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene
    • MR Glavac D Glavac M Dean 1994 Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene Hum Mol Genet 3 801 807
    • (1994) Hum Mol Genet , vol.3 , pp. 801-807
    • Glavac, M.R.1    Glavac, D.2    Dean, M.3
  • 21
    • 0024595101 scopus 로고
    • Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphism
    • M Orita H Iwahana H Kanazawa K Hayashi T Sekiya 1989 Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphism Proc Natl Acad Sci USA 86 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
  • 22
    • 0029997424 scopus 로고    scopus 로고
    • Alteration of the cystic fibrosis transmembrane conductance regulator folding pathway
    • BH Qu PJ Thomas 1996 Alteration of the cystic fibrosis transmembrane conductance regulator folding pathway J Biol Chem 271 7261 7264
    • (1996) J Biol Chem , vol.271 , pp. 7261-7264
    • Qu, B.H.1    Thomas, P.J.2
  • 25
    • 0031900652 scopus 로고    scopus 로고
    • The diagnosis of cystic fibrosis: A consensus statement Cystic fibrosis foundation consensus panel
    • BJ Rosenstein GR Cutting 1998 The diagnosis of cystic fibrosis: a consensus statement Cystic fibrosis foundation consensus panel J Pediatr 132 589 595
    • (1998) J Pediatr , vol.132 , pp. 589-595
    • Rosenstein, B.J.1    Cutting, G.R.2
  • 26
    • 0000091363 scopus 로고
    • A simple and accurate method for the determination of chloride in biological fluids
    • O Schales SS Schales 1941 A simple and accurate method for the determination of chloride in biological fluids J Biol Chem 140 879 884
    • (1941) J Biol Chem , vol.140 , pp. 879-884
    • Schales, O.1    Schales, S.S.2
  • 28
    • 0042283246 scopus 로고
    • Long-term study of one hundred and five patients with cystic fibrosis: Studies made over a 5 to 14 year period
    • H Schwachman LL Kulczycki 1958 Long-term study of one hundred and five patients with cystic fibrosis: studies made over a 5 to 14 year period Am J Dis Child 96 6 15
    • (1958) Am J Dis Child , vol.96 , pp. 6-15
    • Schwachman, H.1    Kulczycki, L.L.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.