A novel TFG mutation causes Charcot-Marie-Tooth disease type 2 and impairs TFG function

Neurology

Volumn 83, Issue 10, 2014, Pages 903-912

  Tsai, Pei Chien ^a   Huang, Yen Hua ^a   Guo, Yuh Cherng ^b,c   Wu, Hung Ta ^a   Lin, Kon Ping ^a   Tsai, Yu Shuen ^a   Liao, Yi Chu ^a   Liu, Yo Tsen ^a   Liu, Tze Tze ^a   Kao, Lung Sen ^a   Yet, Shaw Fang ^d   Fann, Ming Ji ^a   Soong, Bing Wen ^a   Lee, Yi Chung ^a  

^a NATIONAL YANG MING UNIVERSITY   (Taiwan)

^b CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^c CHINA MEDICAL UNIVERSITY   (Taiwan)

^d NATIONAL HEALTH RESEARCH INSTITUTES   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CELL VIABILITY; CLINICAL ARTICLE; CONTROLLED STUDY; EXOME; FEMALE; GENE; GENETIC TRANSFECTION; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOTE; HUMAN; HUMAN CELL; IMMUNOFLUORESCENCE; LINKAGE ANALYSIS; LUCIFERASE ASSAY; MALE; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROTEIN SECRETION; SKELETAL MUSCLE; TAIWANESE; TRK FUSED GENE; GENETIC LINKAGE; GENETICS; METABOLISM; MIDDLE AGED; MUTATION; PATHOLOGY; PATHOPHYSIOLOGY; PEDIGREE; PHENOTYPE; TAIWAN;

PROTEIN; TFG PROTEIN, HUMAN;

ADULT; CHARCOT-MARIE-TOOTH DISEASE; EXOME; FEMALE; GENETIC LINKAGE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; METABOLIC NETWORKS AND PATHWAYS; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; PROTEINS; TAIWAN;

EID: 84922213065     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000000758     Document Type: Article

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