Nonsense Mutations in AAGAB Cause Punctate Palmoplantar Keratoderma Type Buschke-Fischer-Brauer

Punctate palmoplantar keratodermas (PPKPs) are rare autosomal-dominant inherited skin diseases that are characterized by multiple hyperkeratotic plaques distributed on the palms and soles. To date, two different loci in chromosomal regions 15q22-15q24 and 8q24.13-8q24.21 have been reported. Pathogen...

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Bibliografische gegevens
Hoofdauteurs: Giehl, Kathrin A., Eckstein, Gertrud N., Pasternack, Sandra M., Praetzel-Wunder, Silke, Ruzicka, Thomas, Lichtner, Peter, Seidl, Kerstin, Rogers, Mike, Graf, Elisabeth, Langbein, Lutz, Braun-Falco, Markus, Betz, Regina C., Strom, Tim M.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Elsevier 2012
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3484507/
https://ncbi.nlm.nih.gov/pubmed/23000146
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.08.024
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