PMC Links for Nucleotide (Select 209969670) - PMC

Result Filters

Links from Nucleotide

Items: 10

Select item 65030291.

Novel mutations found in the ATP7B gene in Chinese patients with Wilson's disease

Zhiling Qian, Xiongwei Cui, Yunli Huang, Yanmin Liu, Ning Li, Sujun Zheng, Jun Jiang, Shichang Cui

Mol Genet Genomic Med. 2019 May; 7(5): e649. Published online 2019 Mar 18. doi: 10.1002/mgg3.649

PMCID:: PMC6503029

Abstract Article PDF–493K

Select item 60860692.

High genetic carrier frequency of Wilson’s disease in France: discrepancies with clinical prevalence

Corinne Collet, Jean-Louis Laplanche, Justine Page, Hélène Morel, France Woimant, Aurélia Poujois

BMC Med Genet. 2018; 19: 143. Published online 2018 Aug 10. doi: 10.1186/s12881-018-0660-3

PMCID:: PMC6086069

Abstract Article PDF–566K

Select item 60107443.

Multiplex Ligation-dependent Probe Amplification Analysis Subsequent to Direct DNA Full Sequencing for Identifying ATP7B Mutations and Phenotype Correlations in Children with Wilson Disease

Jung Ok Shim, Hye Ran Yang, Jin Soo Moon, Ju Young Chang, Jae Sung Ko, Sung Sup Park, Jeong Kee Seo

J Korean Med Sci. 2018 Jun 25; 33(26): e177. Published online 2018 May 16. doi: 10.3346/jkms.2018.33.e177

PMCID:: PMC6010744

Abstract Article PDF–1.4M

Select item 55117974.

Genetic variation spectrum in ATP7B gene identified in Latvian patients with Wilson disease

Agnese Zarina, Ieva Tolmane, Madara Kreile, Aleksandrs Chernushenko, Gunta Cernevska, Ieva Pukite, Ieva Micule, Zita Krumina, Astrida Krumina, Baiba Rozentale, Linda Piekuse

Mol Genet Genomic Med. 2017 Jul; 5(4): 405–409. Published online 2017 Jun 7. doi: 10.1002/mgg3.297

PMCID:: PMC5511797

Abstract Article PDF–384K

Select item 51673615.

Intragenic Deletions in ATP7B as an Unusual Molecular Genetics Mechanism of Wilson’s Disease Pathogenesis

Theodor Todorov, Prahlad Balakrishnan, Alexey Savov, Piotr Socha, Hartmut H. J. Schmidt

PLoS One. 2016; 11(12): e0168372. Published online 2016 Dec 19. doi: 10.1371/journal.pone.0168372

PMCID:: PMC5167361

Abstract Article PDF–1.4M

Select item 44181546.

Development of low-density oligonucleotide microarrays for detecting mutations causing Wilson's disease

Manjula Mathur, Ekta Singh, T.B. Poduval, Akkipeddi V.S.S.N. Rao

Indian J Med Res. 2015 Feb; 141(2): 175–186. doi: 10.4103/0971-5916.155548

PMCID:: PMC4418154

Abstract Article PDF–2.6M

Select item 39800197.

Family screening for a novel ATP7B gene mutation, c.2335T>G, in the South of Iran

J Manoochehri, R Masoumi Dehshiri, H Faraji, S Mohammadi, H Dastsooz, T Moradi, E Rezaei, Kh Sadeghi, M Fardaei

Iran J Ped Hematol Oncol. 2014; 4(1): 26–31. Published online 2014 Mar 15.

PMCID:: PMC3980019

Abstract Article PDF–234K

Select item 37535518.

Multiplex ARMS PCR to Detect 8 Common Mutations of ATP7B Gene in Patients With Wilson Disease

Hassan Dastsooz, Mohammad Hadi Imanieh, Seyed Mohsen Dehghani, Mahmood Haghighat, Maryam Moini, Majid Fardaei

Hepat Mon. 2013 May; 13(5): e8375. Published online 2013 May 16. doi: 10.5812/hepatmon.8375

PMCID:: PMC3753551

Abstract Article PDF–569K

Select item 36996049.

Novel ATPase Cu²⁺ Transporting Beta Polypeptide Mutations in Chinese Families with Wilson's Disease

Shaojuan Gu, Huarong Yang, Yong Qi, Xiong Deng, Le Zhang, Yi Guo, Qing Huang, Jing Li, Xiaoliu Shi, Zhi Song, Hao Deng

PLoS One. 2013; 8(7): e66526. Published online 2013 Jul 2. doi: 10.1371/journal.pone.0066526

PMCID:: PMC3699604

Abstract Article PDF–897K

Select item 313254810.

Association between the c. 2495 A>G ATP7B Polymorphism and Sporadic Alzheimer's Disease

Serena Bucossi, Stefania Mariani, Mariacarla Ventriglia, Renato Polimanti, Massimo Gennarelli, Cristian Bonvicini, Patrizio Pasqualetti, Federica Scrascia, Simone Migliore, Fabrizio Vernieri, Paolo M. Rossini, Rosanna Squitti

Int J Alzheimers Dis. 2011; 2011: 973692. Published online 2011 Jun 15. doi: 10.4061/2011/973692