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Volumn 46, Issue 5, 1999, Pages 639-642

A Japanese case with Frasier syndrome caused by the splice junction mutation of WT1 gene

Author keywords

Frasier syndrome; Gonadoblastoma; Splice junction mutation; WT1 gene

Indexed keywords

ADOLESCENT; ARTICLE; CASE REPORT; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GONADOBLASTOMA; HUMAN; KIDNEY DISEASE; PATHOGENESIS; POLYMERASE CHAIN REACTION; PSEUDOHERMAPHRODITISM; SEQUENCE ANALYSIS; SYNDROME;

EID: 0032710615     PISSN: 09188959     EISSN: None     Source Type: Journal    
DOI: 10.1507/endocrj.46.639     Document Type: Article
Times cited : (11)

References (12)
  • 4
    • 0000786264 scopus 로고
    • Gonado-blastoma associated with pure gonadal dysgenesis in monozygous twin
    • Frasier SD, Bashore RA, Moiser HD (1964) Gonado-blastoma associated with pure gonadal dysgenesis in monozygous twin. J Pediatr 64: 740-745.
    • (1964) J Pediatr , vol.64 , pp. 740-745
    • Frasier, S.D.1    Bashore, R.A.2    Moiser, H.D.3
  • 5
    • 0023477994 scopus 로고
    • Chronic renal failure and XY gonadal dysgenesis; Frasier syndrome a commentary on reported cases
    • Moorthy AV, Chesney RW, Lubinsky M (1987) Chronic renal failure and XY gonadal dysgenesis; Frasier syndrome a commentary on reported cases. Am J Med Genet (suppl) 3: 297-302.
    • (1987) Am J Med Genet , vol.3 , Issue.SUPPL. , pp. 297-302
    • Moorthy, A.V.1    Chesney, R.W.2    Lubinsky, M.3
  • 6
    • 0023357675 scopus 로고
    • Nephropathy-gonadal dysgenesis, type 2: Renal failure in three siblings with XY dysgenesis in one
    • Kinberg JA, Angle CR, Wilson RB (1987) Nephropathy-gonadal dysgenesis, type 2: renal failure in three siblings with XY dysgenesis in one. Am J Kidney Dis 9: 507-510.
    • (1987) Am J Kidney Dis , vol.9 , pp. 507-510
    • Kinberg, J.A.1    Angle, C.R.2    Wilson, R.B.3
  • 9
    • 0031922880 scopus 로고    scopus 로고
    • Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/- KTS splice isoforms
    • Klamt B, Koziell A, Poulat F, Wieacker P, Scambler P, Berta P, Gessler M (1998) Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/- KTS splice isoforms. Hum Mol Genet 7: 709-714.
    • (1998) Hum Mol Genet , vol.7 , pp. 709-714
    • Klamt, B.1    Koziell, A.2    Poulat, F.3    Wieacker, P.4    Scambler, P.5    Berta, P.6    Gessler, M.7
  • 12
    • 0029071508 scopus 로고
    • Subnuclear localization of WT1 in splicing or transcriptional factor domains is regulated by alternative splicing
    • Larsson SH, Charlieu J-P, Miyagawa K, Engelkamp D, Rassoulzadegan M, Ross A, Cuzin F (1995) Subnuclear localization of WT1 in splicing or transcriptional factor domains is regulated by alternative splicing. Cell 81: 391-401.
    • (1995) Cell , vol.81 , pp. 391-401
    • Larsson, S.H.1    Charlieu, J.-P.2    Miyagawa, K.3    Engelkamp, D.4    Rassoulzadegan, M.5    Ross, A.6    Cuzin, F.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.