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Volumn 44, Issue 6, 1999, Pages 423-424

An Ile/Val polymorphism at codon 1464 of the ATP7A gene

Author keywords

ATP7A; Copper; Menkes disease; MNK gene; Polymorphism

Indexed keywords

ADENOSINE TRIPHOSPHATASE; COPPER; DNA; ISOLEUCINE; VALINE;

EID: 0032701243     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380050194     Document Type: Article
Times cited : (5)

References (6)
  • 3
    • 0032917818 scopus 로고    scopus 로고
    • Identification of three novel mutations in the MNK gene in three unrelated Japanese patients with classical Menkes disease
    • Ogawa A, Yamamoto S, Takayanagi M, Kogo T, Kanazawa M, Kohno Y (1999) Identification of three novel mutations in the MNK gene in three unrelated Japanese patients with classical Menkes disease. J Hum Genet 44:206-209
    • (1999) J Hum Genet , vol.44 , pp. 206-209
    • Ogawa, A.1    Yamamoto, S.2    Takayanagi, M.3    Kogo, T.4    Kanazawa, M.5    Kohno, Y.6
  • 4
    • 0026518090 scopus 로고
    • Mapping of the Menkes locus to Xq13.3 distal to the X-inactivation center by an intrachromosomal insertion of the segment Xq13.3-q21.2
    • Tümer Z, Tommerup N, Tønnesen T, Kreuder J, Craig IW, Horn N (1992) Mapping of the Menkes locus to Xq13.3 distal to the X-inactivation center by an intrachromosomal insertion of the segment Xq13.3-q21.2. Hum Genet 88:668-672
    • (1992) Hum Genet , vol.88 , pp. 668-672
    • Tümer, Z.1    Tommerup, N.2    Tønnesen, T.3    Kreuder, J.4    Craig, I.W.5    Horn, N.6
  • 5
    • 0025905007 scopus 로고
    • Localization of the translocation breakpoint in a female with Menkes syndrome to Xq13.2-q13.3 proximal to PGK-1
    • Verga V, Hall BK, Wang S, Johnson S, Higgins JV, Glover TW (1991) Localization of the translocation breakpoint in a female with Menkes syndrome to Xq13.2-q13.3 proximal to PGK-1. Am J Hum Genet 48:1133-1138
    • (1991) Am J Hum Genet , vol.48 , pp. 1133-1138
    • Verga, V.1    Hall, B.K.2    Wang, S.3    Johnson, S.4    Higgins, J.V.5    Glover, T.W.6
  • 6
    • 0027446365 scopus 로고
    • Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase
    • Vulpe C, Levinson B, Whitney S, Packman S, Gitschier J (1993) Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. Nature Genet 3:7-13
    • (1993) Nature Genet , vol.3 , pp. 7-13
    • Vulpe, C.1    Levinson, B.2    Whitney, S.3    Packman, S.4    Gitschier, J.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.