Search
GJB1 gene mutation; connexin-32 gene mutation
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)
General
gene mutation testing; gene mutation analysis
GJB1 genotyping
References
Loinc