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Human Prion disease with a T188K mutation in Chinese: a case report
Inherited Prion diseases are characterized by mutations in the PRNP gene predispose to disease by causing the expression of abnormal PrP protein. We report a 58-year-old Chinese female with mutation in codon 188 (T188K) of the PRNP gene, while the codon 129 was a methionine homozygous genotype. The...
Autores principales: | Shi, Qi, Gao, Chen, Zhou, Wei, Zhang, Bao-Yun, Tian, Chan, Chen, Jian-Ming, Jiang, Hui-Ying, Han, Jun, Dong, Xiao-Ping |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Cases Network Ltd
2009
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2740053/ https://www.ncbi.nlm.nih.gov/pubmed/19830016 http://dx.doi.org/10.1186/1757-1626-2-7820 |
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