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GJB1 genotyping
Clinical significance:
- defects in GJB1 are the cause of Charcot-Marie-Tooth disease, X-linked dominant, 1
- defects in GJB1 are Dejerine-Sottas syndrome
Related
connexin-32; gap junction protein beta-1 (CX32, GJB1)
Specific
GJB1 gene allele 1
GJB1 gene allele 2
GJB1 gene mutation; connexin-32 gene mutation
General
genotyping (allele testing)
References
Loinc
Component-of
hereditary peripheral neuropathy genotyping