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

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