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

< Terug