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Volumn 1, Issue , 2000, Pages

Identification and characterisation of the murine homologue of the gene responsible for cystinosis, Ctns

Author keywords

[No Author keywords available]

Indexed keywords

CYSTINOSIN; MEMBRANE PROTEIN; UNCLASSIFIED DRUG;

EID: 0002129939     PISSN: 14712164     EISSN: None     Source Type: Journal    
DOI: 10.1186/1471-2164-1-2     Document Type: Article
Times cited : (13)

References (17)
  • 1
    • 0019940282 scopus 로고
    • Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis
    • Gahl WA, Bashan N, Tietze F, Bernardini I, Schulman JD: Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis. Science 1982, 217:1263-1265
    • (1982) Science , vol.217 , pp. 1263-1265
    • Gahl, W.A.1    Bashan, N.2    Tietze, F.3    Bernardini, I.4    Schulman, J.D.5
  • 2
    • 0000164289 scopus 로고
    • Lysosomal transport disorders: Cystinosis and sialic acid storage disorders
    • Edited by Scriver CR, Beaudet AL, Sly WS, and Valle D. New York: McGraw-Hill
    • Gahl WA, Schneider JA, Aula PP: Lysosomal transport disorders: cystinosis and sialic acid storage disorders. In The metabolic and molecular basis of inherited disease. Edited by Scriver CR, Beaudet AL, Sly WS, and Valle D. New York: McGraw-Hill, 1995, 3763-3797
    • (1995) The Metabolic and Molecular Basis of Inherited Disease , pp. 3763-3797
    • Gahl, W.A.1    Schneider, J.A.2    Aula, P.P.3
  • 3
    • 0021356905 scopus 로고
    • The various manifestations of the nephropathic form of cystinosis
    • Lemire J, Kaplan BS: The various manifestations of the nephropathic form of cystinosis. Am J Nephrol 1984, 4 81-85
    • (1984) Am. J. Nephrol. , vol.4 , pp. 81-85
    • Lemire, J.1    Kaplan, B.S.2
  • 5
    • 0023749150 scopus 로고
    • Lack of complementation in somatic cell hybrids between fibroblasts from patients with different forms of cystinosis
    • Pellett OL, Smith ML, Greene AA, Schneider JA: Lack of complementation in somatic cell hybrids between fibroblasts from patients with different forms of cystinosis. Proc Natl Acad Sci USA 1988, 85:3531-3534
    • (1988) Proc. Natl. Acad. Sci. USA , vol.85 , pp. 3531-3534
    • Pellett, O.L.1    Smith, M.L.2    Greene, A.A.3    Schneider, J.A.4
  • 7
    • 0027478064 scopus 로고
    • Improved renal function in children with cystinosis treated with cysteamine
    • Markello TC, Bernardini IM, Gahl WA: Improved renal function in children with cystinosis treated with cysteamine. N Engl J Med 1993, 328:1157-1162
    • (1993) N. Engl. J. Med. , vol.328 , pp. 1157-1162
    • Markello, T.C.1    Bernardini, I.M.2    Gahl, W.A.3
  • 12
    • 0032712587 scopus 로고    scopus 로고
    • Town M. Severity of phenotype in cystinosis varies with mutations in the CTNS gene: Predicted effect on the model of cystinosin
    • Attard M, Jean G, Forestier L, Cherqui S, van't Hoff W, Broyer M, Antignac C, Town M: Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin. Hum Mol Genet 1999, 8:2507-2514
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 2507-2514
    • Attard, M.1    Jean, G.2    Forestier, L.3    Cherqui, S.4    van't Hoff, W.5    Broyer, M.6    Antignac, C.7
  • 14
    • 0025600899 scopus 로고
    • Evolution of insulin-like growth factor II: Characterization of the mouse IGF-II gene and identification of two pseudo-exons
    • Rotwein P, Hall LJ: Evolution of insulin-like growth factor II: characterization of the mouse IGF-II gene and identification of two pseudo-exons. DNA Cell Biol 1990, 9:725-735
    • (1990) DNA Cell Biol. , vol.9 , pp. 725-735
    • Rotwein, P.1    Hall, L.J.2
  • 15
    • 0027202419 scopus 로고
    • Sequence of the WT1 upstream region including the Wit-1 gene
    • Gessler M, Bruns GA: Sequence of the WT1 upstream region including the Wit-1 gene. Genomics 1993, 17:499-501
    • (1993) Genomics , vol.17 , pp. 499-501
    • Gessler, M.1    Bruns, G.A.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.