A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein

Author： Gottfried I.

Publisher： Oxford University Press

ISSN： 1460-2083

Source： Human Molecular Genetics, Vol.11, Iss.11, 2002-05, pp. : 1311-1316

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