235 related articles for article (PubMed ID: 23275100)
1. Identification of one novel and nine recurrent mutations of the ATP7B gene in 11 children with Wilson disease.
Geng J; Wang J; Yao RE; Liu XQ; Fu QH
World J Pediatr; 2013 May; 9(2):158-62. PubMed ID: 23275100
[TBL] [Abstract][Full Text] [Related]
2. Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease.
Park S; Park JY; Kim GH; Choi JH; Kim KM; Kim JB; Yoo HW
Hum Mutat; 2007 Nov; 28(11):1108-13. PubMed ID: 17587212
[TBL] [Abstract][Full Text] [Related]
3. Clinical and molecular characterization of Wilson's disease in China: identification of 14 novel mutations.
Li XH; Lu Y; Ling Y; Fu QC; Xu J; Zang GQ; Zhou F; De-Min Y; Han Y; Zhang DH; Gong QM; Lu ZM; Kong XF; Wang JS; Zhang XX
BMC Med Genet; 2011 Jan; 12():6. PubMed ID: 21219664
[TBL] [Abstract][Full Text] [Related]
4. Mutation analysis of ATP7B gene in Turkish Wilson disease patients: identification of five novel mutations.
Simsek Papur O; Akman SA; Cakmur R; Terzioglu O
Eur J Med Genet; 2013 Apr; 56(4):175-9. PubMed ID: 23333878
[TBL] [Abstract][Full Text] [Related]
5. New mutations in the Wilson disease gene, ATP7B: implications for molecular testing.
Davies LP; Macintyre G; Cox DW
Genet Test; 2008 Mar; 12(1):139-45. PubMed ID: 18373411
[TBL] [Abstract][Full Text] [Related]
6. Mutational characterization of ATP7B gene in 103 Wilson's disease patients from Southern China: identification of three novel mutations.
Wei Z; Huang Y; Liu A; Diao S; Yu Q; Peng Z; Hong M
Neuroreport; 2014 Oct; 25(14):1075-80. PubMed ID: 25089800
[TBL] [Abstract][Full Text] [Related]
7. Identification of novel mutations and the three most common mutations in the human ATP7B gene of Korean patients with Wilson disease.
Yoo HW
Genet Med; 2002; 4(6 Suppl):43S-48S. PubMed ID: 12544487
[TBL] [Abstract][Full Text] [Related]
8. Mutation analysis of the ATP7B gene and genotype-phenotype correlation in Chinese patients with Wilson disease.
Li M; Ma J; Wang W; Yang X; Luo K
BMC Gastroenterol; 2021 Sep; 21(1):339. PubMed ID: 34470610
[TBL] [Abstract][Full Text] [Related]
9. Clinical and genetic analysis of pediatric patients with Wilson disease.
Şimşek Papur Ö; Aşık Akman S; Terzioğlu O
Turk J Gastroenterol; 2015 Sep; 26(5):397-403. PubMed ID: 26215059
[TBL] [Abstract][Full Text] [Related]
10. Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease.
Gu YH; Kodama H; Du SL; Gu QJ; Sun HJ; Ushijima H
Clin Genet; 2003 Dec; 64(6):479-84. PubMed ID: 14986826
[TBL] [Abstract][Full Text] [Related]
11. Mutation analysis and characterization of alternative splice variants of the Wilson disease gene ATP7B.
Wan L; Tsai CH; Hsu CM; Huang CC; Yang CC; Liao CC; Wu CC; Hsu YA; Lee CC; Liu SC; Lin WD; Tsai FJ
Hepatology; 2010 Nov; 52(5):1662-70. PubMed ID: 20931554
[TBL] [Abstract][Full Text] [Related]
12. Genetic variation in the promoter and 5' UTR of the copper transporter, ATP7B, in patients with Wilson disease.
Cullen LM; Prat L; Cox DW
Clin Genet; 2003 Nov; 64(5):429-32. PubMed ID: 14616767
[TBL] [Abstract][Full Text] [Related]
13. Mutational analysis of exon 8 and exon 14 of ATP7B gene in Bangladeshi children with Wilson disease.
Tasmeen R; Karim ASMB; Banu LA; Hossain E; Rokunuzzaman M; Majumder W; Alam ST; Rasid R; Benzamin M; Hasan MS
Indian J Gastroenterol; 2022 Oct; 41(5):456-464. PubMed ID: 36308701
[TBL] [Abstract][Full Text] [Related]
14. [Direct sequencing and analysis of exons of Wilson' disease gene with the most mutations: a study in Hunan Han patients].
Luo KZ; Yang X; Tong DJ; He G; Yi LX
Zhonghua Gan Zang Bing Za Zhi; 2006 Dec; 14(12):920-3. PubMed ID: 17196137
[TBL] [Abstract][Full Text] [Related]
15. Twenty-four novel mutations in Wilson disease patients of predominantly European ancestry.
Cox DW; Prat L; Walshe JM; Heathcote J; Gaffney D
Hum Mutat; 2005 Sep; 26(3):280. PubMed ID: 16088907
[TBL] [Abstract][Full Text] [Related]
16. Copper-dependent trafficking of Wilson disease mutant ATP7B proteins.
Forbes JR; Cox DW
Hum Mol Genet; 2000 Aug; 9(13):1927-35. PubMed ID: 10942420
[TBL] [Abstract][Full Text] [Related]
17. Spectrum of mutations in the ATP binding domain of ATP7B gene of Wilson Disease in a regional Indian cohort.
Guggilla SR; Senagari JR; Rao PN; Madireddi S
Gene; 2015 Sep; 569(1):83-7. PubMed ID: 25982861
[TBL] [Abstract][Full Text] [Related]
18. Analysis of exon 8 of ATP7B gene in Thai patients with Wilson disease.
Keandaungjuntr J; Busabaratana M; Kositchaiwat C; Sura T; Pulkes T
J Med Assoc Thai; 2011 Oct; 94(10):1184-8. PubMed ID: 22145502
[TBL] [Abstract][Full Text] [Related]
19. Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model system.
Hsi G; Cullen LM; Macintyre G; Chen MM; Glerum DM; Cox DW
Hum Mutat; 2008 Apr; 29(4):491-501. PubMed ID: 18203200
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]