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Clinical and molecular significance of splice site mutations in the plakophilin 1 gene in patients with ectodermal dysplasia-skin fragility syndrome.

AuthorsVesarat Wessagowit, John A McGrath
JournalActa dermato-venereologica (Acta Derm Venereol) Vol. 85 Issue 5 Pg. 386-8 ( 2005) ISSN: 0001-5555 [Print] Sweden
PMID16159727 (Publication Type: Comment, Editorial)
Chemical References
  • PKP1 protein, human
  • Plakophilins
  • RNA Splice Sites
Topics
  • Ectodermal Dysplasia (genetics)
  • Heterozygote
  • Humans
  • Mutation
  • Plakophilins (genetics)
  • RNA Splice Sites (genetics)

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