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Volumn 54, Issue 1, 1998, Pages 279-280

Mutational analysis of patients with cystinuria detected by a genetic screening network: Powerful tools in understanding the several forms of the disorder

Author keywords

Amino acids; Chromosome 19q13.1; Genetic marker; rBAT; Renal stone disease; SCL3A1

Indexed keywords

CLINICAL FEATURE; CYSTINURIA; DISEASE CLASSIFICATION; EDITORIAL; GENETIC SCREENING; HUMAN; MOLECULAR CLONING; MUTATION; NEPHROLITHIASIS; PRIORITY JOURNAL; URINE PH;

EID: 0031806635     PISSN: 00852538     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1755.1998.00994.x     Document Type: Editorial
Times cited : (11)

References (11)
  • 1
    • 85119557502 scopus 로고
    • Cystinuria
    • S. Segal S.O. Thier Cystinuria C.R. Scriver A. Beaudet W.S. Sly D. Valle The Molecular and Metabolic Basis of Inherited Disease 1995 McGraw-Hill New York 3581 3601
    • (1995) , pp. 3581-3601
    • Segal, S.1    Thier, S.O.2
  • 2
    • 85119786476 scopus 로고
    • C.R. Scriver L.E. Rosenberg Amino Acid Metabolism and its Disorders 1973 W.B. Saunders Philadelphia 238 247
    • (1973) , pp. 238-247
    • Scriver, C.R.1    Rosenberg, L.E.2
  • 4
    • 0031807024 scopus 로고    scopus 로고
    • Molecular genetics of cystinuria: Mutational analysis of SCL3A1 and evidence for another gene in the Type I (silent) phenotype
    • I. Saadi X.Z. Chen M. Hediger P. Ong P. Pereira P. Goodyer R. Rozen Molecular genetics of cystinuria: Mutational analysis of SCL3A1 and evidence for another gene in the Type I (silent) phenotype Kidney Int 54 1998 48 55
    • (1998) Kidney Int , vol.54 , pp. 48-55
    • Saadi, I.1    Chen, X.Z.2    Hediger, M.3    Ong, P.4    Pereira, P.5    Goodyer, P.6    Rozen, R.7
  • 5
    • 0027276858 scopus 로고
    • Cloning and chromosomal localizations of human kidney cDNA involved, dibasic and neutral amino acid transport
    • W.S. Lee R. Wells R.V. Sabag T.K. Mohandas M.A. Hediger Cloning and chromosomal localizations of human kidney cDNA involved, dibasic and neutral amino acid transport J Clin Invest 91 1993 1959 1963
    • (1993) J Clin Invest , vol.91 , pp. 1959-1963
    • Lee, W.S.1    Wells, R.2    Sabag, R.V.3    Mohandas, T.K.4    Hediger, M.A.5
  • 7
    • 0028556715 scopus 로고
    • Assignment of the gene for cystinuria (SCL3A1) to human chromosome 2p21 by fluorescence in situ hybridization
    • X.X. Zhang R. Rozen M.A. Hediger P. Goodyer P. Eydoux Assignment of the gene for cystinuria (SCL3A1) to human chromosome 2p21 by fluorescence in situ hybridization Genomics 24 1994 413 414
    • (1994) Genomics , vol.24 , pp. 413-414
    • Zhang, X.X.1    Rozen, R.2    Hediger, M.A.3    Goodyer, P.4    Eydoux, P.5
  • 8
    • 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
    • R. Wartenfeld E. Golomb G. Katz S.J. Bale B. Goldman M. Pras D.L. Kastner E. Pras Molecular analysis of cystinuria in Libyan Jews: Exclusion of the SLC3A1 gene and mapping of a new locus on 19q Am J Hum Genet 60 1997 617 624
    • (1997) Am J Hum Genet , vol.60 , pp. 617-624
    • Wartenfeld, R.1    Golomb, E.2    Katz, G.3    Bale, S.J.4    Goldman, B.5    Pras, M.6    Kastner, D.L.7    Pras, E.8
  • 9
    • 0027054424 scopus 로고
    • Expression of mRNA (D@) encoding a protein involved in amino acid transport in S3 proximal tubule
    • Y. Kanai M.G. Stelzner W.-S. Lee Wells RG D. Brown M.A. Hediger Expression of mRNA (D@) encoding a protein involved in amino acid transport in S3 proximal tubule Am J Physiol 263 1992 F1087 F1093
    • (1992) Am J Physiol , vol.263 , pp. F1087-F1093
    • Kanai, Y.1    Stelzner, M.G.2    Lee, W.-S.3    Wells4    RG5    Brown, D.6    Hediger, M.A.7
  • 11
    • 0027510375 scopus 로고
    • Prospective analysis and classification of patients with cystinuria identified in a newborn screening program
    • P.R. Goodyer C. Clow T. Reade C. Girardin Prospective analysis and classification of patients with cystinuria identified in a newborn screening program J Pediatr 122 1993 568 572
    • (1993) J Pediatr , vol.122 , pp. 568-572
    • Goodyer, P.R.1    Clow, C.2    Reade, T.3    Girardin, C.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.