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Volumn 98, Issue 6, 1996, Pages 640-642

Wilson disease mutations associated with uncommon haplotypes in Mediterranean patients

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; ADENOSINE TRIPHOSPHATE; MEMBRANE PROTEIN;

EID: 10544236905     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050275     Document Type: Article
Times cited : (42)

References (10)
  • 1
    • 0027452091 scopus 로고
    • The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene
    • Bull PC, Thomas GR, Rommens JM, Forbes JR, Cox DW (1993) The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet 5: 327-337
    • (1993) Nat Genet , vol.5 , pp. 327-337
    • Bull, P.C.1    Thomas, G.R.2    Rommens, J.M.3    Forbes, J.R.4    Cox, D.W.5
  • 2
    • 0001504685 scopus 로고
    • Disorders of copper transport
    • Scriver CR, Beaudet AL, Sly WS, Valle D (eds) MacGraw-Hill New York
    • Danks DM (1989) Disorders of copper transport. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited diseases, 6th edn, vol 1. MacGraw-Hill New York, pp 1416-1422
    • (1989) The Metabolic Basis of Inherited Diseases, 6th Edn , vol.1 , pp. 1416-1422
    • Danks, D.M.1
  • 6
    • 0028040512 scopus 로고
    • Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: Genomic organization, alternative splicing, and structure/function predictions
    • Petrukhin K, Lutsenko S, Chernov I, Ross MB, Kaplan JH, Gilliam TC (1994) Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions. Hum Mol Genet 3: 1647-1656
    • (1994) Hum Mol Genet , vol.3 , pp. 1647-1656
    • Petrukhin, K.1    Lutsenko, S.2    Chernov, I.3    Ross, M.B.4    Kaplan, J.H.5    Gilliam, T.C.6
  • 7
    • 0024330475 scopus 로고
    • Prenatal diagnosis of β-thalassemia in Mediterranean population by dot blot analysis with DNA amplification and allelic specific oligonucleotide probes
    • Ristaldi MS, Pirastu M, Rosatelli C, Monni G, Erlich HA, Saiki R, Cao A (1989) Prenatal diagnosis of β-thalassemia in Mediterranean population by dot blot analysis with DNA amplification and allelic specific oligonucleotide probes. Prenat Diagn 9: 629-638
    • (1989) Prenat Diagn , vol.9 , pp. 629-638
    • Ristaldi, M.S.1    Pirastu, M.2    Rosatelli, C.3    Monni, G.4    Erlich, H.A.5    Saiki, R.6    Cao, A.7
  • 9


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.