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Volumn 98, Issue 5, 1996, Pages 587-589

Two novel mutations in the aquaporin-2 and the vasopressin V2 receptor genes in patients with congenital nephrogenic diabetes insipidus

Author keywords

[No Author keywords available]

Indexed keywords

AQUAPORIN; VASOPRESSIN V2 RECEPTOR;

EID: 0029811507     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050264     Document Type: Article
Times cited : (37)

References (10)
  • 1
    • 0026738937 scopus 로고
    • Exon skipping in purine nucleoside phosphorylase mRNA processing leading to severe immunodeficiency
    • Andrews LG, Markert ML (1992) Exon skipping in purine nucleoside phosphorylase mRNA processing leading to severe immunodeficiency. J Biol Chem 267:7834-7838
    • (1992) J Biol Chem , vol.267 , pp. 7834-7838
    • Andrews, L.G.1    Markert, M.L.2
  • 3
    • 0000511029 scopus 로고
    • Illegitimate transcription: Transcription of any gene in any cell type
    • Chelly J, Concordet JP, Kaplan JC, Kahn A (1989) Illegitimate transcription: transcription of any gene in any cell type. Proc Natl Acad Sci USA 86:2617-2621
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 2617-2621
    • Chelly, J.1    Concordet, J.P.2    Kaplan, J.C.3    Kahn, A.4
  • 6
    • 0028044713 scopus 로고
    • A novel point mutation (G to T) in a 5′ splice donor site of intron 13 of the dystrophin gene results in exon skipping and is responsible for Becker muscular dystrophy
    • Hagiwara,Y, Nishio H, Kitoh Y, Takeshima Y, Narita N, Wada H, Yokoyama H, Nakamura H, Matsuo M (1994) A novel point mutation (G to T) in a 5′ splice donor site of intron 13 of the dystrophin gene results in exon skipping and is responsible for Becker muscular dystrophy. Am J Hum Genet 54:53-61
    • (1994) Am J Hum Genet , vol.54 , pp. 53-61
    • Hagiwara, Y.1    Nishio, H.2    Kitoh, Y.3    Takeshima, Y.4    Narita, N.5    Wada, H.6    Yokoyama, H.7    Nakamura, H.8    Matsuo, M.9
  • 8
    • 0026740975 scopus 로고
    • Cloning and characterization of a vasopressin V2 receptor and possible link to nephrogenic diabetes insipidus
    • Lolait SJ, O'Carroll AM, McBride OW, Konig M, Morel A, Brownstein MJ (1992) Cloning and characterization of a vasopressin V2 receptor and possible link to nephrogenic diabetes insipidus. Nature 357:336-339
    • (1992) Nature , vol.357 , pp. 336-339
    • Lolait, S.J.1    O'Carroll, A.M.2    McBride, O.W.3    Konig, M.4    Morel, A.5    Brownstein, M.J.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.