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单词 gjb1
释义

GJB1


GJB1

A gene on chromosome Xq13.1 that encodes a beta chain of the gap junction protein family or connexions.
Molecular pathology
GJB1 mutations cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy.

GJB1


AcronymDefinition
GJB1➣Gap Junction Protein, Beta1
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