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■ Search Result - Abbreviation : CMTX1

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Abbreviation: CMTX1
Appearance Frequency: 8 time(s)
Long forms: 6

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Long Form No. Long Form Research Area Co-occurring Abbreviation PubMed/MEDLINE Info. (Year, Title)
Charcot-Marie-Tooth neuropathy X type 1
(2 times)
Neurology
(2 times)
GJB1 (1 time)
2015 X-Linked Hereditary Motor Sensory Neuropathy Type 1 (CMTX1) in a Three-Generation Gelao Chinese Family.
Charcot-Marie-Tooth type X1 disease
(2 times)
Genetics
(1 time)
CMT (1 time)
Cx32 (1 time)
IRES (1 time)
2004 Molecular genetic analysis of the GJB1 gene: a study of six mutations.
Charcot-Marie-Tooth disease type X1
(1 time)
Nervous System Diseases
(1 time)
CMT (1 time)
GJ (1 time)
GJB1 (1 time)
2016 Clinical and biophysical characterization of 19 GJB1 mutations.
Charcot-Marie-Tooth disease, X-linked dominant 1
(1 time)
Neurology
(1 time)
--- 2018 [Charcot-Marie-Tooth disease showing transient central nervous system lesions after a large amount of alcohol intake: A case report].
Charcot-Marie-Tooth type 1 X
(1 time)
Biology
(1 time)
CMT (1 time)
Cx32 (1 time)
2017 Substitution impact of highly conserved arginine residue at position 75 in GJB1 gene in association with X-linked Charcot-Marie-tooth disease: A computational study.
CMT type X1
(1 time)
Genetics
(1 time)
CMT (1 time)
GJB1 (1 time)
IRES (1 time)
2021 Revisiting the pathogenic mechanism of the GJB1 5' UTR c.-103C > T mutation causing CMTX1.