GJB1
Deellabo: | PGD DNA |
Gen (Gen Code): | GJB1 |
Aliases Gen: | CMTX, CMTX1, CX32 |
Gen ID (NCBI): | 2705 |
OMIM Gen ID: | 304040 |
Chromosomale locatie: | Xq13.1 |
Genetische aandoening / Analyse: | Charcot-Marie-Tooth, ziekte van, X-linked dominant, 1 (CMTX1) |
OMIM aandoening ID: | 302800 |
Overerving: | X-linked D |
Aliases aandoening: | CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1; CMTX1 CMTX CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY, X-LINKED HEREDITARY MOTOR AND SENSORY NEUROPATHY, X-LINKED HMSN, X-LINKED CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED, 1 CMT2, FORMERLY |