267 related articles for article (PubMed ID: 30884209)
1. Novel mutations found in the ATP7B gene in Chinese patients with Wilson's disease.
Qian Z; Cui X; Huang Y; Liu Y; Li N; Zheng S; Jiang J; Cui S
Mol Genet Genomic Med; 2019 May; 7(5):e649. PubMed ID: 30884209
[TBL] [Abstract][Full Text] [Related]
2. Whole-exome sequencing identifies novel pathogenic variants across the ATP7B gene and some modifiers of Wilson's disease phenotype.
Kluska A; Kulecka M; Litwin T; Dziezyc K; Balabas A; Piatkowska M; Paziewska A; Dabrowska M; Mikula M; Kaminska D; Wiernicka A; Socha P; Czlonkowska A; Ostrowski J
Liver Int; 2019 Jan; 39(1):177-186. PubMed ID: 30230192
[TBL] [Abstract][Full Text] [Related]
3. Contribution of intragenic deletions to mutation spectrum in Chinese patients with Wilson's disease and possible mechanism underlying ATP7B gross deletions.
Chen YC; Yu H; Wang RM; Xie JJ; Ni W; Zhang Y; Dong Y; Wu ZY
Parkinsonism Relat Disord; 2019 May; 62():128-133. PubMed ID: 30655162
[TBL] [Abstract][Full Text] [Related]
4. Identification of two novel mutations in the ATP7B gene that cause Wilson's disease.
Zhu HW; Tao ZB; Su G; Jin QY; Zhao LT; Zhu JR; Yan J; Yu TY; Ding JX; Li YM
World J Pediatr; 2017 Aug; 13(4):387-391. PubMed ID: 28856630
[TBL] [Abstract][Full Text] [Related]
5. Molecular analysis of 53 Chinese families with Wilson's disease: Six novel mutations identified.
Xiao Z; Yang Y; Huang H; Tang H; Liu L; Tang J; Shi X
Mol Genet Genomic Med; 2021 Sep; 9(9):e1735. PubMed ID: 34324271
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. ATP7B Mutation Detection and Pathogenicity Analysis: One Atypical Case of Wilson's Disease with Adrenocortical Insufficiency.
Liu M; Jin M; Chen X; Wan B; Guo Y; Sheng M; Chen L; Zhao L; Huang D; Li Y
J Mol Neurosci; 2018 Jan; 64(1):20-28. PubMed ID: 29181760
[TBL] [Abstract][Full Text] [Related]
8. Genetic studies discover novel coding and non-coding mutations in patients with Wilson's disease in China.
Huang C; Fang M; Xiao X; Gao Z; Wang Y; Gao C
J Clin Lab Anal; 2022 Jun; 36(6):e24459. PubMed ID: 35470480
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. [Phenotype and genotype analysis of 55 children patients with Wilson's disease].
Zhou XY; Yin HX; Wang CL; Liu ZF; Zheng BX; Jin Y
Zhonghua Gan Zang Bing Za Zhi; 2020 Jul; 28(7):603-607. PubMed ID: 32791797
[No Abstract] [Full Text] [Related]
13. The spectrum of pathogenic variants of the ATP7B gene in Wilson disease in the Russian Federation.
Balashova MS; Tuluzanovskaya IG; Glotov OS; Glotov AS; Barbitoff YA; Fedyakov MA; Alaverdian DA; Ivashchenko TE; Romanova OV; Sarana AM; Scherbak SG; Baranov VS; Filimonov MI; Skalny AV; Zhuchenko NA; Ignatova TM; Asanov AY
J Trace Elem Med Biol; 2020 May; 59():126420. PubMed ID: 31708252
[TBL] [Abstract][Full Text] [Related]
14. Novel mutations of the ATP7B gene in Han Chinese families with pre-symptomatic Wilson's disease.
Yuan ZF; Wu W; Yu YL; Shen J; Mao SS; Gao F; Xia ZZ
World J Pediatr; 2015 Aug; 11(3):255-60. PubMed ID: 26253413
[TBL] [Abstract][Full Text] [Related]
15. ATP7B mutations in families in a predominantly Southern Indian cohort of Wilson's disease patients.
Santhosh S; Shaji RV; Eapen CE; Jayanthi V; Malathi S; Chandy M; Stanley M; Selvi S; Kurian G; Chandy GM
Indian J Gastroenterol; 2006; 25(6):277-82. PubMed ID: 17264425
[TBL] [Abstract][Full Text] [Related]
16. Epidemiology of Wilson's Disease and Pathogenic Variants of the
Ovchinnikova EV; Garbuz MM; Ovchinnikova AA; Kumeiko VV
Int J Mol Sci; 2024 Feb; 25(4):. PubMed ID: 38397079
[TBL] [Abstract][Full Text] [Related]
17. A genetic study of Wilson's disease in the United Kingdom.
Coffey AJ; Durkie M; Hague S; McLay K; Emmerson J; Lo C; Klaffke S; Joyce CJ; Dhawan A; Hadzic N; Mieli-Vergani G; Kirk R; Elizabeth Allen K; Nicholl D; Wong S; Griffiths W; Smithson S; Giffin N; Taha A; Connolly S; Gillett GT; Tanner S; Bonham J; Sharrack B; Palotie A; Rattray M; Dalton A; Bandmann O
Brain; 2013 May; 136(Pt 5):1476-87. PubMed ID: 23518715
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Activation of HIF-1 signaling ameliorates liver steatosis in zebrafish atp7b deficiency (Wilson's disease) models.
Mi X; Li Z; Yan J; Li Y; Zheng J; Zhuang Z; Yang W; Gong L; Shi J
Biochim Biophys Acta Mol Basis Dis; 2020 Oct; 1866(10):165842. PubMed ID: 32446740
[TBL] [Abstract][Full Text] [Related]
20. Pathogenic gene variation spectrum and carrier screening for Wilson's disease in Qingdao area.
Qiao L; Ge J; Li C; Liu Y; Hu C; Hu S; Li W; Li T
Mol Genet Genomic Med; 2021 Aug; 9(8):e1741. PubMed ID: 34240825
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]