Advanced search×

A novel GJB2 mutation p.Asn54His in a patient with palmoplantar keratoderma, sensorineural hearing loss and knuckle pads.

Masashi M Akiyama, Kaori K Sakai, Ken K Arita, Yukiko Y Nomura, Kei K Ito, Kazuo K Kodama, James R JR McMillan, Kinuko K Kobayashi, Daisuke D Sawamura, and Hiroshi H Shimizu

J Invest Dermatol 127(6):1540-3 (2007) PMID 17255958

DOI: 10.1038/sj.jid.5700711
Version: za2963e q8za2 q8zbd q8zc7 q8zdf q8ze9 q8zfa q8zge

Similar articles you may find interesting…

  1. Lung cancer in never-smokers. Does smoking history matter in the era of molecular diagnostics and targeted therapy?
    Sai-Hong Ignatius Ou

    J Clin Pathol (2013) PMID 23661716

    We tend to classify lung cancer by smoking status for screening purpose. With the discoveries of many actionable driver mutations such as activating EGFR mutations and ALK rearrangement in adenocarcinoma of the lung we have switched to classifying non-small cell lung cancer into different individual...
  2. In vivo tissue cholesterol efflux is reduced in carriers of a mutation in APOA1.
    Adriaan G Holleboom, Lily Jakulj, and Erik S G Stroes

    J Lipid Res (2013) PMID 23650622

    We investigated in vivo cholesterol fluxes through the RCT pathway in patients with low plasma HDL-c due to mutations in APOA1. Methods and results. Seven carriers of the L202P mutation in APOA1 (mean HDL-c: 20 mg/dl (SD 19)) and seven unaffected controls (mean HDL-c: 54 mg/dl (SD 11), p<0.0001) rec...
    PDF not found
  3. Long-term outcome with lenalidomide and dexamethasone therapy for newly diagnosed multiple myeloma.
    G Srivastava, V Rana, and S Kumar

    Leukemia (2013) PMID 23648667

    We studied 286 consecutive patients with newly diagnosed MM initially treated with Len-Dex. The median (range) age at diagnosis was 63 (28-92) years, 166 (58%) patients =PR) of 72%, inclu...