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Nephrology Dialysis Transplantation
Volumn 15, Issue 6, 2000, Pages 909-912
Cutaneous white spots in a child with polycystic kidneys: A clue to TSC2/PKD1 gene mutation
Author keywords

Autosomal dominant polycystic kidney disease; Tuberous sclerosis
Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHROMOSOME 16; FEMALE; GENE MUTATION; HUMAN; KIDNEY POLYCYSTIC DISEASE; PRESCHOOL CHILD; PRIORITY JOURNAL; SKIN MANIFESTATION; TUBEROUS SCLEROSIS;
EID: 0034065260     PISSN: 09310509     EISSN: None     Source Type: Journal    
DOI: 10.1093/ndt/15.6.909     Document Type: Article
Times cited : (7)
References (11)
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    • Bernstein, J.1
  • 2
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    • Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease-a contiguous gene syndrome
    • Brook-Carter PT, Peral B, Ward CJ et al. Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease-a contiguous gene syndrome. Nat Genet 1994; 8: 328-332
    • (1994) Nat Genet , vol.8 , pp. 328-332
    • Brook-Carter, P.T.1    Peral, B.2    Ward, C.J.3
  • 3
    • 0029903275 scopus 로고    scopus 로고
    • A cross sectional study of renal involvement in tuberous sclerosis
    • Cook JA, Oliver K, Mueller RF, Sampson J. A cross sectional study of renal involvement in tuberous sclerosis. J Med Genet 1996; 33: 480-484
    • (1996) J Med Genet , vol.33 , pp. 480-484
    • Cook, J.A.1    Oliver, K.2    Mueller, R.F.3    Sampson, J.4
  • 4
    • 0016724663 scopus 로고
    • Signification des taches achromiques chez le nourrisson
    • Debard A, Richardet JM. Signification des taches achromiques chez le nourrisson [letter]. Nouvelle Presse Med 1975; 4: 2404
    • (1975) Nouvelle Presse Med , vol.4 , pp. 2404
    • Debard, A.1    Richardet, J.M.2
  • 5
    • 0027925829 scopus 로고
    • Autosomal dominant polycystic kidney disease
    • Gabow PA. Autosomal dominant polycystic kidney disease. N Engl J Med 1993; 329: 332-342
    • (1993) N Engl J Med , vol.329 , pp. 332-342
    • Gabow, P.A.1
  • 6
    • 0031790118 scopus 로고    scopus 로고
    • The molecular biology of polycystic kidney disease
    • Murcia NS, Woychik RP, Avner AD. The molecular biology of polycystic kidney disease. Ped Nephrol 1998; 12: 721-726
    • (1998) Ped Nephrol , vol.12 , pp. 721-726
    • Murcia, N.S.1    Woychik, R.P.2    Avner, A.D.3
  • 7
    • 0033577488 scopus 로고    scopus 로고
    • Tuberous sclerosis
    • O'Callaghan FJK. Tuberous sclerosis. Br Med J 1999; 318: 1019-1020
    • (1999) Br Med J , vol.318 , pp. 1019-1020
    • O'Callaghan, F.J.K.1
  • 9
    • 16944367389 scopus 로고    scopus 로고
    • Renal cystic disease in tuberous sclerosis: Role of the polycystic kidney disease 1 gene
    • Sampson JR, Maheshwar MM, Aspinwall R, et al. Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene. Am J Hum Genet 1997; 61: 843-851
    • (1997) Am J Hum Genet , vol.61 , pp. 843-851
    • Sampson, J.R.1    Maheshwar, M.M.2    Aspinwall, R.3
  • 10
    • 0027770784 scopus 로고
    • Identification and characterisation of the tuberous sclerosis gene on chromosome 16
    • The European Chromosome 16 Tuberous Sclerosis Consortium. Identification and characterisation of the tuberous sclerosis gene on chromosome 16. Cell 1993; 75: 1305-1315
    • (1993) Cell , vol.75 , pp. 1305-1315
  • 11
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    • The polycystic kidney disease 1 gene encodes a 14kb transcript and lies within a duplicated region on chromosome 16
    • The European Polycystic Kidney Disease Consortium. The polycystic kidney disease 1 gene encodes a 14kb transcript and lies within a duplicated region on chromosome 16. Cell 1994; 77: 881-894
    • (1994) Cell , vol.77 , pp. 881-894

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.