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Identification of a Novel Mutation of LAMB3 Gene in a Lybian Patient with Hereditary Epidermolysis Bullosa by Whole Exome Sequencing

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참고문헌 (9)

  1. Masunaga T, "Epidermal basement membrane: its molecular organization and blistering disorders", Connect Tissue Res, 47, pp.55~66 (2006)
  2. Kiezun A, "Exome sequencing and the genetic basis of complex traits", Nat Genet, 44, pp.623~630 (2012)
  3. Cheng JB, "Genetics and epigenetics of the skin meet deep sequence", J Invest Dermatol, 132, pp.923~932 (2012)
  4. Ben Brick AS, "Mutational founder effect in recessive dystrophic epidermolysis bullosa families from Southern Tunisia", Arch Dermatol Res, 306, pp.405~411 (2014)
  5. Nakazawa Y, "Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair", Nat Genet, 44, pp.586~592 (2012)
  6. Baralle D, "Splicing in action: assessing disease causing sequence changes", J Med Genet, 42, pp.737~748 (2005)
  7. Krawczak M, "The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences", Hum Genet, 90, pp.41~54 (1992)
  8. Nakano A, "Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes", Hum Genet, 110, pp.41~51 (2002)
  9. Yuen WY, "Herlitz junctional epidermolysis bullosa:diagnostic features, mutational profile, incidence and population carrier frequency in the Netherlands", Br J Dermatol, 165, pp.1314~1322 (2011)

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