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, Kazumitsu Sugiura, T. Takeichi, M. Akiyama

研究成果: Letter

4 引用 (Scopus)
元の言語English
ページ(範囲)948-950
ページ数3
ジャーナルBritish Journal of Dermatology
169
発行部数4
DOI
出版物ステータスPublished - 01-10-2013
外部発表Yes

Fingerprint

Papillon-Lefevre Disease
Cathepsin C
Consanguinity
Nonsense Codon
Homozygote
Tooth

All Science Journal Classification (ASJC) codes

  • Dermatology

これを引用

@article{fc00aeae34ba4853a150a35c00280fff,
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 Kazumitsu Sugiura and T. Takeichi and M. Akiyama",
year = "2013",
month = "10",
day = "1",
doi = "10.1111/bjd.12429",
language = "English",
volume = "169",
pages = "948--950",
journal = "British Journal of Dermatology",
issn = "0007-0963",
publisher = "Wiley-Blackwell",
number = "4",

}

TY - JOUR

T1 - 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

AU - Kobayashi, T.

AU - Sugiura, Kazumitsu

AU - Takeichi, T.

AU - Akiyama, M.

PY - 2013/10/1

Y1 - 2013/10/1

UR - http://www.scopus.com/inward/record.url?scp=84885660442&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84885660442&partnerID=8YFLogxK

U2 - 10.1111/bjd.12429

DO - 10.1111/bjd.12429

M3 - Letter

VL - 169

SP - 948

EP - 950

JO - British Journal of Dermatology

JF - British Journal of Dermatology

SN - 0007-0963

IS - 4

ER -