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Prion Volume 7, 2013 - Issue 3
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Short Communication

Rare V203I mutation in the PRNP gene of a Chinese patient with Creutzfeldt–Jakob disease

Qi Shi State Key Laboratory for Infectious Disease Prevention and Control; National Institute for Viral Disease Control and Prevention; Chinese Center for Disease Control and Prevention; Beijing, P.R. China
,
Cao Chen State Key Laboratory for Infectious Disease Prevention and Control; National Institute for Viral Disease Control and Prevention; Chinese Center for Disease Control and Prevention; Beijing, P.R. China
,
Xian-Jun Wang Shandong Provincial Center for Disease Control and Prevention; Jinan, P.R. China
,
Wei Zhou State Key Laboratory for Infectious Disease Prevention and Control; National Institute for Viral Disease Control and Prevention; Chinese Center for Disease Control and Prevention; Beijing, P.R. China
,
Ji-Chun Wang State Key Laboratory for Infectious Disease Prevention and Control; National Institute for Viral Disease Control and Prevention; Chinese Center for Disease Control and Prevention; Beijing, P.R. China
,
Bao-Yun Zhang State Key Laboratory for Infectious Disease Prevention and Control; National Institute for Viral Disease Control and Prevention; Chinese Center for Disease Control and Prevention; Beijing, P.R. China
,
Chan Tian State Key Laboratory for Infectious Disease Prevention and Control; National Institute for Viral Disease Control and Prevention; Chinese Center for Disease Control and Prevention; Beijing, P.R. China
,
Chen Gao State Key Laboratory for Infectious Disease Prevention and Control; National Institute for Viral Disease Control and Prevention; Chinese Center for Disease Control and Prevention; Beijing, P.R. China
,
Jun Han State Key Laboratory for Infectious Disease Prevention and Control; National Institute for Viral Disease Control and Prevention; Chinese Center for Disease Control and Prevention; Beijing, P.R. China
&
Xiao-Ping Dong State Key Laboratory for Infectious Disease Prevention and Control; National Institute for Viral Disease Control and Prevention; Chinese Center for Disease Control and Prevention; Beijing, P.R. China; Chinese Academy of Sciences Key Laboratory of Pathogenic Microbiology and Immunology; Institute of Microbiology; Chinese Academy of Sciences; Beijing, P.R. ChinaCorrespondence[email protected]
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Pages 259-262 | Received 18 Jan 2013, Accepted 11 Apr 2013, Published online: 15 Apr 2013

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Ilaria Gandoglia, Laura Strada, Anna Poleggi, Antonio Castaldi, Massimo Del Sette & Emilio Di Maria. (2022) Penetrance of the V203I variant of the PRNP gene: report of a patient with stroke-like onset of Creutzfeld-Jacob Disease and review of published cases. Prion 16:1, pages 19-22.
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Eva Bagyinszky, Vo Van Giau, Young Chul Youn, Seong Soo A An & SangYun Kim. (2018) Characterization of mutations in PRNP (prion) gene and their possible roles in neurodegenerative diseases. Neuropsychiatric Disease and Treatment 14, pages 2067-2085.
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Qi Shi, Xiao-Jing Shen, Wei Zhou, Kang Xiao, Xiao-Mei Zhang, Bao-Yun Zhang & Xiao-Ping Dong. (2014) Rare V180I mutation in PRNP gene of a Chinese patient with Creutzfeldt-Jakob disease. Prion 8:6, pages 411-414.
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Junji Komatsu, Kenji Sakai, Tsuyoshi Hamaguchi, Yu Sugiyama, Kazuo Iwasa & Masahito Yamada. (2014) Creutzfeldt-Jakob disease associated with a V203I homozygous mutation in the prion protein gene. Prion 8:5, pages 336-338.
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Articles from other publishers (9)

Dan Yeong Kim, Kyu Hwan Shim, Eva Bagyinszky & Seong Soo A. An. (2022) Prion Mutations in Republic of Republic of Korea, China, and Japan. International Journal of Molecular Sciences 24:1, pages 625.
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Malco Rossi, Sterre Veen, Marcelo Merello, Marina A.J. Tijssen & Bart Warrenburg. (2020) Myoclonus‐Ataxia Syndromes: A Diagnostic Approach . Movement Disorders Clinical Practice 8:1, pages 9-24.
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Anna Ladogana & Gabor G. Kovacs. 2018. Human Prion Diseases. Human Prion Diseases 219 242 .
Matthias Schmitz, Kathrin Dittmar, Franc Llorens, Ellen Gelpi, Isidre Ferrer, Walter J. Schulz-Schaeffer & Inga Zerr. (2016) Hereditary Human Prion Diseases: an Update. Molecular Neurobiology 54:6, pages 4138-4149.
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Gabor G. Kovacs, Jasmin Rahimi, Thomas Ströbel, Mirjam I. Lutz, Günther Regelsberger, Nathalie Streichenberger, Armand Perret-Liaudet, Romana Höftberger, Pawel P. Liberski, Herbert Budka & Beata Sikorska. (2017) Tau pathology in Creutzfeldt-Jakob disease revisited. Brain Pathology 27:3, pages 332-344.
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Eric Vallabh MinikelSonia M. VallabhMonkol LekKarol EstradaKaitlin E. SamochaJ. Fah SathirapongsasutiCory Y. McLeanJoyce Y. TungLinda P. C. YuPierluigi GambettiJanis BlevinsShulin ZhangYvonne CohenWei ChenMasahito YamadaTsuyoshi HamaguchiNobuo SanjoHidehiro MizusawaYosikazu NakamuraTetsuyuki KitamotoSteven J. CollinsAlison BoydRobert G. WillRichard KnightClaudia PontoInga ZerrTheo F. J. KrausSabina EigenbrodArmin GieseMiguel CaleroJesús de Pedro-CuestaStéphane HaïkJean-Louis LaplancheElodie Bouaziz-AmarJean-Philippe BrandelSabina CapellariPiero ParchiAnna PoleggiAnna LadoganaAnne H. O’Donnell-LuriaKonrad J. KarczewskiJamie L. MarshallMichael Boehnke, Markku LaaksoKaren L. MohlkeAnna KählerKimberly ChambertSteven McCarrollPatrick F. SullivanChristina M. HultmanShaun M. PurcellPamela SklarSven J. van der LeeAnnemieke RozemullerCasper JansenAlbert HofmanRobert KraaijJeroen G. J. van RooijM. Arfan IkramAndré G. UitterlindenCornelia M. van DuijnMark J. DalyDaniel G. MacArthur. (2016) Quantifying prion disease penetrance using large population control cohorts. Science Translational Medicine 8:322.
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Sol Moe Lee, Myungguen Chung, Kyu Jam Hwang, Young Ran Ju, Jae Wook Hyeon, Jun-Sun Park, Chi-Kyeong Kim, Sangho Choi, Jeongmin Lee & Su Yeon Kim. (2014) Biological network inferences for a protection mechanism against familial Creutzfeldt-Jakob disease with E200K pathogenic mutation. BMC Medical Genomics 7:1.
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Liheng Yang, Yan Zhang, Lipeng Hu, Ying Zhu, Man-Sun Sy & Chaoyang Li. (2014) A panel of monoclonal antibodies against the prion protein proves that there is no prion protein in human pancreatic ductal epithelial cells. Virologica Sinica 29:4, pages 228-236.
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Qi Shi, Xiaojing Shen, Wei Zhou, Kang Xiao, Xiaomei Zhang, Bao-Yun Zhang & Xiao-Ping Dong. (2014) Rare V180I mutation in PRNP gene of a Chinese patient with Creutzfeldt-Jacob disease. Prion 8:3.
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