A Novel GJB2 Mutation p.Asn54His in a Patient with Palmoplantar Keratoderma, Sensorineural Hearing Loss and Knuckle Pads

A Novel GJB2 Mutation p.Asn54His in a Patient with Palmoplantar Keratoderma, Sensorineural Hearing Loss and Knuckle Pads

Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of Investigative Dermatology - Volume 127, Issue 6, June 2007, Pages 1540-1543

Masashi Akiyama, Kaori Sakai, Ken Arita, Yukiko Nomura, Kei Ito, Kazuo Kodama, James R. McMillan, Kinuko Kobayashi, Daisuke Sawamura, Hiroshi Shimizu,