290 related articles for article (PubMed ID: 10453196)
21. ATP7B (WND) protein.
Terada K; Schilsky ML; Miura N; Sugiyama T
Int J Biochem Cell Biol; 1998 Oct; 30(10):1063-7. PubMed ID: 9785470
[TBL] [Abstract][Full Text] [Related]
22. High frequency of the c.3207C>A (p.H1069Q) mutation in ATP7B gene of Lithuanian patients with hepatic presentation of Wilson's disease.
Kucinskas L; Jeroch J; Vitkauskiene A; Sakalauskas R; Petrenkiene V; Kucinskas V; Naginiene R; Schmidt H; Kupcinskas L
World J Gastroenterol; 2008 Oct; 14(38):5876-9. PubMed ID: 18855987
[TBL] [Abstract][Full Text] [Related]
23. Mutational analysis of ATP7B gene and the genotype-phenotype correlation in patients with Wilson's disease in Serbia.
Tomić A; Dobricić V; Novaković I; Svetel M; Pekmezović T; Kresojević N; Potrebić A; Kostić VS
Vojnosanit Pregl; 2013 May; 70(5):457-62. PubMed ID: 23789284
[TBL] [Abstract][Full Text] [Related]
24. Genetic and Clinical Analysis in a Cohort of Patients with Wilson's Disease in Southwestern China.
Liu Y; Zhou H; Guo H; Bai Y
Arch Med Res; 2015 Feb; 46(2):164-9. PubMed ID: 25704634
[TBL] [Abstract][Full Text] [Related]
25. Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease.
Gromadzka G; Schmidt HH; Genschel J; Bochow B; Rodo M; Tarnacka B; Litwin T; Chabik G; Członkowska A
Clin Genet; 2005 Dec; 68(6):524-32. PubMed ID: 16283883
[TBL] [Abstract][Full Text] [Related]
26. Severe hepatic Wilson's disease in preschool-aged children.
Wilson DC; Phillips MJ; Cox DW; Roberts EA
J Pediatr; 2000 Nov; 137(5):719-22. PubMed ID: 11060541
[TBL] [Abstract][Full Text] [Related]
27. Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson's disease cohort.
Lee BH; Kim JH; Lee SY; Jin HY; Kim KJ; Lee JJ; Park JY; Kim GH; Choi JH; Kim KM; Yoo HW
Liver Int; 2011 Jul; 31(6):831-9. PubMed ID: 21645214
[TBL] [Abstract][Full Text] [Related]
28. Clinical presentation, diagnosis and long-term outcome of Wilson's disease: a cohort study.
Merle U; Schaefer M; Ferenci P; Stremmel W
Gut; 2007 Jan; 56(1):115-20. PubMed ID: 16709660
[TBL] [Abstract][Full Text] [Related]
29. Mutation Analysis of the ATP7B Gene in Seven Chinese Families with Wilson's Disease.
Xiao H; Deng S; Deng X; Gu S; Yang Z; Yin H; Deng H
Digestion; 2019; 99(4):319-326. PubMed ID: 30384382
[TBL] [Abstract][Full Text] [Related]
30. Value of molecular analysis of Wilson's disease in the absence of tissue copper deposits: a novel ATP7B mutation in an adult patient.
Kok KF; Hoevenaars B; Waanders E; Drenth JP
Neth J Med; 2008 Sep; 66(8):348-50. PubMed ID: 18809983
[TBL] [Abstract][Full Text] [Related]
31. [Genotype and phenotype correlation in Chinese patients with Wilson's Disease].
Liu XQ; Zhang YF; Liu TT; Gu XF; Hsiao KJ; Bao KR; Yu LH
Zhonghua Er Ke Za Zhi; 2003 Jan; 41(1):35-8. PubMed ID: 14761325
[TBL] [Abstract][Full Text] [Related]
32. Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson's disease: a case report.
Liu G; Ma D; Cheng J; Zhang J; Luo C; Sun Y; Hu P; Wang Y; Jiang T; Xu Z
BMC Med Genet; 2018 Apr; 19(1):61. PubMed ID: 29649982
[TBL] [Abstract][Full Text] [Related]
33. p.H1069Q mutation in ATP7B and biochemical parameters of copper metabolism and clinical manifestation of Wilson's disease.
Gromadzka G; Schmidt HH; Genschel J; Bochow B; Rodo M; Tarnacka B; Litwin T; Chabik G; Członkowska A
Mov Disord; 2006 Feb; 21(2):245-8. PubMed ID: 16211609
[TBL] [Abstract][Full Text] [Related]
34. High prevalence of fulminant hepatic failure among patients with mutant alleles for truncation of ATP7B in Wilson's disease.
Okada T; Shiono Y; Kaneko Y; Miwa K; Hasatani K; Hayashi Y; Mibayashi H; Aoyagi H; Tsuji S; Yoshimitsu M; Hayashi H; Yamagishi M
Scand J Gastroenterol; 2010 Oct; 45(10):1232-7. PubMed ID: 20491539
[TBL] [Abstract][Full Text] [Related]
35. Rapid detection of the Wilson's disease H1069Q mutation by melting curve analysis with the LightCycler.
Witt H; Landt O
Clin Chem Lab Med; 2001 Oct; 39(10):953-5. PubMed ID: 11758609
[TBL] [Abstract][Full Text] [Related]
36. The His1069Gln mutation in the ATP7B gene in Romanian patients with Wilson's disease referred to a tertiary gastroenterology center.
Iacob R; Iacob S; Nastase A; Vagu C; Ene AM; Constantinescu A; Anghel D; Banica C; Paslaru L; Coriu D; Dima S; Gheorghe C; Ionica E; Gheorghe L
J Gastrointestin Liver Dis; 2012 Jun; 21(2):181-5. PubMed ID: 22720308
[TBL] [Abstract][Full Text] [Related]
37. Gene symbol: ATP7B. Disease: Wilson's disease.
Margarit E
Hum Genet; 2005 Dec; 118(3-4):544-5. PubMed ID: 16521294
[No Abstract] [Full Text] [Related]
38. Genotype phenotype correlation in Wilson's disease within families--a report on four south Indian families.
Santhosh S; Shaji RV; Eapen CE; Jayanthi V; Malathi S; Finny P; Thomas N; Chandy M; Kurian G; Chandy GM
World J Gastroenterol; 2008 Aug; 14(29):4672-6. PubMed ID: 18698682
[TBL] [Abstract][Full Text] [Related]
39. [Mutation analysis of 35 Wilson's disease pedigrees].
Zong Y; Kong X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Feb; 33(1):30-3. PubMed ID: 26829729
[TBL] [Abstract][Full Text] [Related]
40. Direct sequencing of mutations in the copper-transporting P-type adenosine triphosphate (ATP7B) gene for diagnosis and pathogenesis of Wilson's disease.
Zhang DF; Teng JF
Genet Mol Res; 2016 Sep; 15(3):. PubMed ID: 27706781
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
