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A novel TGM1 splicing mutation in a collodion baby with cicatricial ectropion.

AuthorsShin Hae Park, Ji Young Shin, Young Min Park, Young Ah Youn, Myungshin Kim
JournalCanadian journal of ophthalmology. Journal canadien d'ophtalmologie (Can J Ophthalmol) Vol. 48 Issue 6 Pg. e144-5 (Dec 2013) ISSN: 1715-3360 [Electronic] England
PMID24314425 (Publication Type: Case Reports, Letter)
Chemical References
  • Transglutaminases
  • transglutaminase 1
Topics
  • Alternative Splicing (genetics)
  • DNA Mutational Analysis
  • Ectropion (genetics)
  • Gestational Age
  • Humans
  • Ichthyosis, Lamellar (genetics)
  • Infant, Newborn
  • Male
  • Mutation (genetics)
  • Polymerase Chain Reaction
  • Transglutaminases (genetics)

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