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Volumn 49, Issue 2, 1996, Pages 103-105

Mild CF in a ΔF508/R347H compound heterozygote woman: Does the manifestation of this genotype differ in the two sexes?

Author keywords

Clinical manifestation; Cystic fibrosis; Genotype phenotype correlation; Rare mutations

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CONTROLLED STUDY; CYSTIC FIBROSIS; DISEASE SEVERITY; FEMALE; GENE DELETION; GENE MUTATION; GENOTYPE; HETEROZYGOTE; HUMAN; HUMAN CELL; PRIORITY JOURNAL; SEX DIFFERENCE;

EID: 0029979495     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1996.tb04338.x     Document Type: Article
Times cited : (9)

References (11)
  • 2
    • 0028299622 scopus 로고
    • Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes
    • Chillón M, Casals T, Giménez J, Dolores Ramos M, Palacio A, Morral N, Estivill X, Nunes V. Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes. Hum Genet 1994: 93: 447-451.
    • (1994) Hum Genet , vol.93 , pp. 447-451
    • Chillón, M.1    Casals, T.2    Giménez, J.3    Dolores Ramos, M.4    Palacio, A.5    Morral, N.6    Estivill, X.7    Nunes, V.8
  • 3
    • 0027018275 scopus 로고
    • Four new mutations of the CFTR gene (541delC, R347H, R352Q, E585X) detected by DGGE analysis in Italian CF patients, associated with different clinical phenotypes
    • Cremonesi L, Ferrari M. Belloni E, Magnani C, Scia M, Ronchetto P, Rady M, Russo MP, Romeo G, Devoto M. Four new mutations of the CFTR gene (541delC, R347H, R352Q, E585X) detected by DGGE analysis in Italian CF patients, associated with different clinical phenotypes. Hum Mutat 1992: 1: 314-319.
    • (1992) Hum Mutat , vol.1 , pp. 314-319
    • Cremonesi, L.1    Ferrari, M.2    Belloni, E.3    Magnani, C.4    Scia, M.5    Ronchetto, P.6    Rady, M.7    Russo, M.P.8    Romeo, G.9    Devoto, M.10
  • 4
    • 0028281799 scopus 로고
    • Analysis of the whole CFTR coding regions and splice junctions in azoospermic men with congenital bilateral aplasia of epididymis or vas deferens
    • Culard J-F, Desgeorges M, Costa P, Laussel M, Razakatzara G, Navratil H, Demaille J, Claustres M. Analysis of the whole CFTR coding regions and splice junctions in azoospermic men with congenital bilateral aplasia of epididymis or vas deferens. Hum Genet 1994: 93: 467-470.
    • (1994) Hum Genet , vol.93 , pp. 467-470
    • Culard, J.-F.1    Desgeorges, M.2    Costa, P.3    Laussel, M.4    Razakatzara, G.5    Navratil, H.6    Demaille, J.7    Claustres, M.8
  • 5
    • 0025312731 scopus 로고
    • Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients
    • Dean M, White MB, Amos J, Gerrard B, Stewart C, Khaw KT, Leppert M. Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients. Cell 1990: 61: 863-870.
    • (1990) Cell , vol.61 , pp. 863-870
    • Dean, M.1    White, M.B.2    Amos, J.3    Gerrard, B.4    Stewart, C.5    Khaw, K.T.6    Leppert, M.7
  • 8
    • 0027438374 scopus 로고
    • Nasal epithelial ion transport and genetic analysis of infertile men with congenital bilateral absence of the vas deferens
    • Osborne LR, Lynch M, Middleton PG, Alton EWFW, Geddes DM, Pryor JP, Hodson ME, et al. Nasal epithelial ion transport and genetic analysis of infertile men with congenital bilateral absence of the vas deferens. Hum Mol Genet 1993: 2: 1605-1609.
    • (1993) Hum Mol Genet , vol.2 , pp. 1605-1609
    • Osborne, L.R.1    Lynch, M.2    Middleton, P.G.3    Alton, E.W.F.W.4    Geddes, D.M.5    Pryor, J.P.6    Hodson, M.E.7
  • 10
    • 0027162649 scopus 로고
    • Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis
    • Welsh MJ, Smith AE. Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis. Cell 1993: 73: 1251-1254.
    • (1993) Cell , vol.73 , pp. 1251-1254
    • Welsh, M.J.1    Smith, A.E.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.