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■ Search Result - Abbreviation : GJB1

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Abbreviation: GJB1
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Long forms: 6

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Long Form No. Long Form Research Area Co-occurring Abbreviation PubMed/MEDLINE Info. (Year, Title)
gap junction protein beta 1
(29 times)
(18 times)
CMT (12 times)
CX32 (7 times)
MRI (3 times)
2001 Mutation analysis in Chariot-Marie Tooth disease type 1: point mutations in the MPZ gene and the GJB1 gene cause comparable phenotypic heterogeneity.
gap junction beta 1
(15 times)
(9 times)
Cx32 (5 times)
CMT (4 times)
MRI (3 times)
1999 Three novel mutations in the gap junction beta 1 (GJB1) gene coding region identified in Charcot-Marie-Tooth patients of Greek origin: T55I, R164Q, V120E. Mutation in brief no 236. Online.
gap junction beta 1 gene
(8 times)
(7 times)
CNS (4 times)
CMT (3 times)
MRI (2 times)
2008 Experimental therapeutics in hereditary neuropathies: the past, the present, and the future.
gap junction beta-1 protein
(5 times)
(3 times)
CMT (3 times)
MPZ (3 times)
PMP22 (3 times)
2007 Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene.
Gap Junction B1
(2 times)
(1 time)
CMT1X (1 time)
2014 Contribution of copy number variations in CMT1X: a retrospective study.
GJ beta-1 protein
(1 time)
Nervous System Diseases
(1 time)
CMT (1 time)
CMTX1 (1 time)
GJ (1 time)
2016 Clinical and biophysical characterization of 19 GJB1 mutations.