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Volumn 43, Issue 2, 2001, Pages 110-113

Molecular genetic anaylses of cystinuria type 1 in 24 Turkish patients

Author keywords

Cystinuria type I; Molecular genetics; Mutation; Polymorphism

Indexed keywords

AMINO ACID TRANSPORTER; CARRIER PROTEIN; MEMBRANE PROTEIN; SLC7A9 PROTEIN, HUMAN;

EID: 0035317437     PISSN: 00414301     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (5)

References (22)
  • 1
    • 0013455952 scopus 로고
    • Cystinuria
    • Baltimore, MD: The Johns Hopkins University Press
    • th ed.). Baltimore, MD: The Johns Hopkins University Press; 1990: 1128-1129.
    • (1990) th Ed.) , pp. 1128-1129
    • Mckusick, V.A.1
  • 2
    • 0013887059 scopus 로고
    • Cystinuria: Biochemical evidence of three genetically distinct diseases
    • Rosenberg L, Downing S, Durant J, Segal S. Cystinuria: biochemical evidence of three genetically distinct diseases. J Clin Invest 1966; 45: 365-371.
    • (1966) J Clin Invest , vol.45 , pp. 365-371
    • Rosenberg, L.1    Downing, S.2    Durant, J.3    Segal, S.4
  • 3
    • 0002855984 scopus 로고
    • Cystinuria
    • Scriver CH, Beaudet AL, Sly WS, Valle D (eds). New York: McGraw-Hill
    • th ed). New York: McGraw-Hill; 1995: 3581-3601.
    • (1995) th Ed) , pp. 3581-3601
    • Segal, S.1    Thier, S.O.2
  • 6
    • 0347802653 scopus 로고    scopus 로고
    • Eskişehir ilköģretim okulu çocuklarinda sistinüri prevalansi. 44
    • 4-8 Eylül Bursa
    • D. Aydoǧdu S, Kirel B, Coşkun T, et al. Eskişehir ilköģretim okulu çocuklarinda sistinüri prevalansi. 44. Milli Pediatri Kongresi Özet Kitabi, 4-8 Eylül 2000, Bursa, P165.
    • (2000) Milli Pediatri Kongresi Özet Kitabi
    • D. Aydoǧdu, S.1    Kirel, B.2    Coşkun, T.3
  • 7
    • 0027276858 scopus 로고
    • Cloning and chromosomal localization of a human kidney cDNa involved in cystine, dibasic and neutral amino acid transport
    • Lee WS, Wells RG, Sabbag RV, Mohandas TK, Hediger MA. Cloning and chromosomal localization of a human kidney cDNA involved in cystine, dibasic and neutral amino acid transport. J Clin Invest 1993; 91: 1959-1963.
    • (1993) J Clin Invest , vol.91 , pp. 1959-1963
    • Lee, W.S.1    Wells, R.G.2    Sabbag, R.V.3    Mohandas, T.K.4    Hediger, M.A.5
  • 8
    • 0028309007 scopus 로고
    • Localization of a gene causing cystinuria to chromosome 2p
    • Pras E, Arber N, Aksentijevich I, et al. Localization of a gene causing cystinuria to chromosome 2p. Nature Genet 1994; 6: 415-419.
    • (1994) Nature Genet , vol.6 , pp. 415-419
    • Pras, E.1    Arber, N.2    Aksentijevich, I.3
  • 9
    • 0029061119 scopus 로고
    • Assignment of the gene responsible for cystinuria (rBAT) and of markers D2S119 and D2S177 to 2p16 by fluorescence in situ hybridization
    • Calonge MJ, Nadal M, Calvano S, et al. Assignment of the gene responsible for cystinuria (rBAT) and of markers D2S119 and D2S177 to 2p16 by fluorescence in situ hybridization. Hum Genet 1995; 95: 633-636.
    • (1995) Hum Genet , vol.95 , pp. 633-636
    • Calonge, M.J.1    Nadal, M.2    Calvano, S.3
  • 10
    • 16944366211 scopus 로고    scopus 로고
    • Localization by linkage analysis of the cystinuria type III gene to chromosome 19q13.1
    • Bisceglia L, Calonge MJ, Totaro A, et al. Localization by linkage analysis of the cystinuria type III gene to chromosome 19q13.1. Am J Hum Genet 1997; 60: 611-616.
    • (1997) Am J Hum Genet , vol.60 , pp. 611-616
    • Bisceglia, L.1    Calonge, M.J.2    Totaro, A.3
  • 11
    • 0031029375 scopus 로고    scopus 로고
    • Molecular analysis of cystinuria in Libyan Jews: Exclusion of the SLC3A1 gene and mapping of a new locus on 19q
    • Wartenfeld R, Golomb E, Katz G, et al. Molecular analysis of cystinuria in Libyan Jews: Exclusion of the SLC3A1 gene and mapping of a new locus on 19q. Am J Hum Genet 1997; 60: 617-624.
    • (1997) Am J Hum Genet , vol.60 , pp. 617-624
    • Wartenfeld, R.1    Golomb, E.2    Katz, G.3
  • 12
  • 13
    • 0030588131 scopus 로고    scopus 로고
    • Genomic structure and organization of the human rBAT gene (SLC3A1)
    • Purroy J, Bisceglia L, Calonge MJ, et al. Genomic structure and organization of the human rBAT gene (SLC3A1). Genomics 1996; 37: 249-252.
    • (1996) Genomics , vol.37 , pp. 249-252
    • Purroy, J.1    Bisceglia, L.2    Calonge, M.J.3
  • 14
    • 0029861168 scopus 로고    scopus 로고
    • Recent advances in the biochemical and molecular biological basis of cystinuria
    • Gitomer WL, Pak CY. Recent advances in the biochemical and molecular biological basis of cystinuria. J Urol 1996; 156: 1907-1912.
    • (1996) J Urol , vol.156 , pp. 1907-1912
    • Gitomer, W.L.1    Pak, C.Y.2
  • 15
    • 0034004788 scopus 로고    scopus 로고
    • Identification of five novel SLC3A1 (rBAT) gene mutations in Japanese cystinuria
    • Egoshi KI, Akakura K, Kodama T, Ito H. Identification of five novel SLC3A1 (rBAT) gene mutations in Japanese cystinuria. Kidney Int 2000; 57: 25-32.
    • (2000) Kidney Int , vol.57 , pp. 25-32
    • Egoshi, K.I.1    Akakura, K.2    Kodama, T.3    Ito, H.4
  • 16
    • 0028237714 scopus 로고
    • Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine
    • Calonge MJ, Gasparini P, Chillaron J, et al. Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine. Nature Genet 1994; 6: 420-425.
    • (1994) Nature Genet , vol.6 , pp. 420-425
    • Calonge, M.J.1    Gasparini, P.2    Chillaron, J.3
  • 17
    • 0029100842 scopus 로고
    • Molecular genetics of cystinuria: Identification of four new mutations and seven polymorphisms and evidence for genetic heterogeneity
    • Gasparini P, Calonge MJ, Bisceglia L, et al. Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms and evidence for genetic heterogeneity. Am J Hum Genet 1995; 57: 781-788.
    • (1995) Am J Hum Genet , vol.57 , pp. 781-788
    • Gasparini, P.1    Calonge, M.J.2    Bisceglia, L.3
  • 18
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucl Acids Res 1988; 16: 1215.
    • (1988) Nucl Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 19
    • 0029791704 scopus 로고    scopus 로고
    • 0.+ - Like amino acid - transport system in the renal reabsorption of cystine and dibasic amino acids
    • 0.+ - like amino acid - transport system in the renal reabsorption of cystine and dibasic amino acids. Biochem Soc Transac 1996; 24: 856-863.
    • (1996) Biochem Soc Transac , vol.24 , pp. 856-863
    • Palacin, M.1    Chillaron, J.2    Mora, C.3
  • 20
    • 0029986520 scopus 로고    scopus 로고
    • Phenotype characterization and prevalence of rBAT M467T mutation in Italian cystinuric patients
    • Sanctis L, Bruno M, Bonetti G, et al. Phenotype characterization and prevalence of rBAT M467T mutation in Italian cystinuric patients. J Inherit Metab Dis 1996; 19: 243-245.
    • (1996) J Inherit Metab Dis , vol.19 , pp. 243-245
    • Sanctis, L.1    Bruno, M.2    Bonetti, G.3
  • 21
    • 10144242646 scopus 로고    scopus 로고
    • Molecular analysis of the cystinuria disease gene: Identification of four new mutations, one large deletion and one polymorphism
    • Bisceglia L, Calonge MJ, Strologo LD, et al. Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion and one polymorphism. Hum Genet 1996; 98: 447-451.
    • (1996) Hum Genet , vol.98 , pp. 447-451
    • Bisceglia, L.1    Calonge, M.J.2    Strologo, L.D.3
  • 22
    • 0029025722 scopus 로고
    • Study of 12 mutations in Turkish cystic fibrosis patients
    • Yilmaz E, Erdem H, Özgüç M, et al. Study of 12 mutations in Turkish cystic fibrosis patients. Hum Hered 1995; 45: 175-177.
    • (1995) Hum Hered , vol.45 , pp. 175-177
    • Yilmaz, E.1    Erdem, H.2    Özgüç, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.