PMP22
Deellabo: | PGD DNA |
Gen (Gen Code): | PMP22 |
Aliases Gen: | DSS; HNPP; CMT1A; CMT1E; GAS-3; Sp110; HMSNIA; MGC20769; PMP22 |
Gen ID (NCBI): | 5376 |
OMIM Gen ID: | 601097 |
Chromosomale locatie: | 17p12 |
Genetische aandoening / Analyse: | Charcot-Marie-Tooth, ziekte van, type 1A (CMT1A) |
OMIM aandoening ID: | 118220 |
Overerving: | AD |
Aliases aandoening: | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A HEREDITARY MOTOR AND SENSORY NEUROPATHY IA; HMSN IA HMSN1A CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1A CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, WITH FOCALLY FOLDED MYELIN SHEATHS, TYPE 1A |