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Clinical and molecular characterization of BSCL2 mutations in a taiwanese cohort with hereditary neuropathy
Cheng Tsung Hsiao
, Pei Chien Tsai
, Chou Ching Lin
, Yo Tsen Liu
,
Yen Hua Huang
, Yi Chu Liao
, Han Wei Huang
, Kon Ping Lin
, Bing Wen Soong
, Yi Chung Lee
生物醫學資訊研究所
研究成果
:
Article
›
同行評審
24
引文 斯高帕斯(Scopus)
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Keyphrases
Taiwanese
100%
Molecular Characterization
100%
Clinical Characterization
100%
Hereditary Neuropathy
100%
BSCL2
100%
Inherited Neuropathy
57%
Distal Hereditary Motor Neuropathy (dHMN)
42%
Taiwan
28%
Charcot-Marie-Tooth Disease
28%
Cell Viability
14%
Targeted Sequencing
14%
Coding Region
14%
Pathogenic Role
14%
In Vitro Study
14%
Reduced Cell
14%
Number of Patients
14%
Molecular Spectra
14%
Pedigree
14%
Seipin
14%
BSCL2 Gene
14%
Medicine and Dentistry
Neuropathy
100%
Multifocal Motor Neuropathy
50%
DeJerine-Sottas Disease
33%
In Vitro
16%
Cell Viability
16%
Pedigree
16%
Neuroscience
Neuropathy
100%
Distal Hereditary Motor Neuropathies
50%
Charcot-Marie-Tooth Disease
33%
In Vitro
16%
Cell Viability
16%
Coding Region
16%
Pharmacology, Toxicology and Pharmaceutical Science
Neuropathy
100%
Motor Neuropathy
50%
Hereditary Motor Sensory Neuropathy
33%
Cell Viability
16%
Biochemistry, Genetics and Molecular Biology
BSCL2
100%
In Vitro Study
12%
Cell Viability
12%
Coding Region
12%
Pedigree
12%