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Volumn 58, Issue 1, 1996, Pages 86-96

Screening the 3′ region of the polycystic kidney disease l (PKD1) gene reveals six novel mutations

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; FEMALE; GENE DELETION; GENE DUPLICATION; GENE INSERTION; GENE MUTATION; GENETIC POLYMORPHISM; HUMAN; KIDNEY POLYCYSTIC DISEASE; MALE; PRIORITY JOURNAL;

EID: 0029655664     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (116)

References (5)
  • 2
    • 0028051871 scopus 로고
    • 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, Thompson P, Hughes J, Maheshwar MM, Nellist M, et al (1994) Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease - a contiguous gene syndrome. Nat Genet 8:328-332
    • (1994) Nat Genet , vol.8 , pp. 328-332
    • Brook-Carter, P.T.1    Peral, B.2    Ward, C.J.3    Thompson, P.4    Hughes, J.5    Maheshwar, M.M.6    Nellist, M.7
  • 3
    • 0028942745 scopus 로고
    • Analysis of the genomic sequence for the autosomal dominant polycystic kidney disease (PKD1) gene predicts the presence of a leucine-rich repeat
    • Burn TC, Connors TD, Dackowski WR, Petry LR, Van Raay TJ, Millholland JM, Venet M, et al (1995) Analysis of the genomic sequence for the autosomal dominant polycystic kidney disease (PKD1) gene predicts the presence of a leucine-rich repeat. Hum Mol Genet 4:575-582
    • (1995) Hum Mol Genet , vol.4 , pp. 575-582
    • Burn, T.C.1    Connors, T.D.2    Dackowski, W.R.3    Petry, L.R.4    Van Raay, T.J.5    Millholland, J.M.6    Venet, M.7
  • 4
    • 0023277545 scopus 로고
    • Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction
    • Chomczynski P, Sacchi N (1987) Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 162:156-159
    • (1987) Anal Biochem , vol.162 , pp. 156-159
    • Chomczynski, P.1    Sacchi, N.2
  • 5
    • 0022996859 scopus 로고
    • Human triose-phosphate isomerase deficiency: A single amino acid substitution results in a thermolabile enzyme
    • Daar IO, Artymiuk PJ, Phillips DC- Maquat LE (1986) Human triose-phosphate isomerase deficiency: a single amino acid substitution results in a thermolabile enzyme. Proc Natl Acad Sci USA 83:7903-7907
    • (1986) Proc Natl Acad Sci USA , vol.83 , pp. 7903-7907
    • Daar, I.O.1    Artymiuk, P.J.2    Phillips, D.C.3    Maquat, L.E.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.