The novel CTSC homozygous nonsense mutation p.Lys106X in a patient with Papillon-Lefèvre syndrome with all permanent teeth remaining at over 40 years of age

T. Kobayashi, K. Sugiura, T. Takeichi, M. Akiyama

Research output: Contribution to journalLetter

4 Citations (Scopus)
Original languageEnglish
Pages (from-to)948-950
Number of pages3
JournalBritish Journal of Dermatology
Volume169
Issue number4
DOIs
Publication statusPublished - 01-10-2013

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Papillon-Lefevre Disease
Cathepsin C
Consanguinity
Nonsense Codon
Homozygote
Tooth

All Science Journal Classification (ASJC) codes

  • Dermatology

Cite this

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title = "The novel CTSC homozygous nonsense mutation p.Lys106X in a patient with Papillon-Lef{\`e}vre syndrome with all permanent teeth remaining at over 40 years of age",
author = "T. Kobayashi and K. Sugiura and T. Takeichi and M. Akiyama",
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The novel CTSC homozygous nonsense mutation p.Lys106X in a patient with Papillon-Lefèvre syndrome with all permanent teeth remaining at over 40 years of age. / Kobayashi, T.; Sugiura, K.; Takeichi, T.; Akiyama, M.

In: British Journal of Dermatology, Vol. 169, No. 4, 01.10.2013, p. 948-950.

Research output: Contribution to journalLetter

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AU - Kobayashi, T.

AU - Sugiura, K.

AU - Takeichi, T.

AU - Akiyama, M.

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