肝豆状核变性的诊断学研究进展(2)
 |
| 第1页 |
参见附件。
[2] Dhawan A，Ferenci P，GeubeI A，et aI.Genes and metaIs：a deadly combination[J].Acta Gastroenterol Belg,2005,68(1):26～32.
[3] Ala A, Schilsky ML.Wilson disease：pathophysiology, diagnosis, treatment, and screening[J] .Clin Liver Dis, 2004,8(4) ：787～805.
[4] Tanzi RE，Petrukhin K，Chemov I，et a1.The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene.Nat Genet,1993,5(4)：344～50.
[5] Kenney SM，Cox DW.Sequence variation database for the Wilson disease copper transporter，ATP7B.Hum Mutat,2007,28(12)：117I～7.
[6] Ala A, Schilsky ML. Wilson disease: pathophysiology, diagnosis, treatment, and screening[J]. Clin Liver Dis,2004,8(4): 787～805.
[7] Brage A，Tome S，Garela A，et a1.Clinical and molecular characterization
of wilson disease in Spanish patients.Hepatol Res,2007,37(7)：18～26.
[8] Walker JM, Tsivkovski R, Lutsenko S. Metallochaperone Atox1 transfers copper to the NH2-terminal domain of the Wilson‘ s disease protain and regulates its catalytic activity[J]. J Biol Chem, 2002,277(31): 27953～9.
[9] Tao TY, Liu F, Klomp L, et al. The copper toxicosis gene product Murr1 directly interacts with the Wilson disease protein[J]. J Biol Chem, 2003,278(43): 41593～6.
[10] Burstein E, Ganesh L, Dick RD, et al. A novel role for XIAP in copper homeostasis through regulation of MURR1[J].EMBO J,2004,23(1):245～54.
[11] Ferenci P, Caca K, Loudianos G, et a1. Diagnosis and pheno-typic classification of Wilson disease. Liver Inter,2003,23:139～142.
您现在查看是摘要介绍页，详见PDF附件(2509kb)。