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  • × Charcot-Marie-Tooth disease type 2
 全选  【符合条件的数据共：5条】

1 Mitochondrial Dysfunction in a Patient with 8q21.11 Deletion and Charcot-Marie-Tooth Disease Type 2K due to GDAP1 Haploinsufficiency [期刊论文]

来源：Molecular Syndromology , 2015

作者:Diane Africk, Dmitriy Niyazov

关键词:Charcot-Marie-Tooth disease type 2;8q21.11 deletion;...

使用许可:Unknown

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2 Genetic and Clinical Studies of Peripheral Neuropathies with Three Small Heat Shock Protein Gene Variants in Korea [期刊论文]

来源：Genes , 2022

作者:Ah Jin Lee;Si On Lim;Wonseok Son;等

关键词:Charcot-Marie-Tooth disease type 2;distal hereditary motor neuropathies;...

使用许可:Unknown

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3 Metabolic and Functional Improvements in a Patient with Charcot-Marie-Tooth Disease Type 2 after EGCG Administration: A Case Report [期刊论文]

来源：Medicina , 2021

作者:Eraci Drehmer;Felix Platero;María Benlloch;等

关键词:Charcot-Marie-Tooth disease type 2;epigallocatechin gallate;...

使用许可:Unknown

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4 Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel [期刊论文]

来源：BMC Medical Genetics , 2016

作者:Rachel Straussberg;Yoram Nevo;Sharon Aharoni;等

关键词:GAN;Charcot-Marie-Tooth disease type 2;...

使用许可:CC BY

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5 Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel [期刊论文]

来源：BMC Medical Genetics , 2016

作者:Rachel Straussberg;Yoram Nevo;Sharon Aharoni;等

关键词:GAN;Charcot-Marie-Tooth disease type 2;...

使用许可:CC BY

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