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R75Q de novo dominant mutation of GJB2 in a Chinese family with hearing loss and palmoplantar keratoderma.
Jiang, Shu-juan; Di, Zheng-hong; Huang, Dan; Zhang, Jiu-bin; Zhang, Yuan-yuan; Li, Shu-qin; He, Rong.
Affiliation
  • Jiang SJ; Clinical Genetics Department, The Affiliated Shengjing Hospital, China Medical University, 110004 Shenyang, Liaoning, PR China.
  • Di ZH; Dermatological Department, The Affiliated Shengjing Hospital, China Medical University, 110004 Shenyang, Liaoning, PR China.
  • Huang D; Clinical Genetics Department, The Affiliated Shengjing Hospital, China Medical University, 110004 Shenyang, Liaoning, PR China.
  • Zhang JB; Orthopedics Department, The First Affiliated Hospital, China Medical University, 110001 Shenyang, Liaoning, PR China.
  • Zhang YY; Clinical Genetics Department, The Affiliated Shengjing Hospital, China Medical University, 110004 Shenyang, Liaoning, PR China.
  • Li SQ; Virus Laboratory, The Affiliated Shengjing Hospital, China Medical University, 110004 Shenyang, Liaoning, PR China.
  • He R; Clinical Genetics Department, The Affiliated Shengjing Hospital, China Medical University, 110004 Shenyang, Liaoning, PR China. Electronic address: her@sj-hospital.org.
Int J Pediatr Otorhinolaryngol ; 78(9): 1461-6, 2014 Sep.
Article in En | MEDLINE | ID: mdl-24975403
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Keratoderma, Palmoplantar / Connexins / Asian People / Hearing Loss, Sensorineural / Mutation Type of study: Prognostic_studies Limits: Adult / Female / Humans / Male / Middle aged Country/Region as subject: Asia Language: En Journal: Int J Pediatr Otorhinolaryngol Year: 2014 Document type: Article
Fulltext
Add to My VHL
Print
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Keratoderma, Palmoplantar / Connexins / Asian People / Hearing Loss, Sensorineural / Mutation Type of study: Prognostic_studies Limits: Adult / Female / Humans / Male / Middle aged Country/Region as subject: Asia Language: En Journal: Int J Pediatr Otorhinolaryngol Year: 2014 Document type: Article