Novel mutation in the KITLG gene in familial progressive hyperpigmentation with or without hypopigmentation

研究成果: Article査読

2 被引用数 (Scopus)

抄録

We herein report a novel mutation in familial progressive hyper- and hypopigmentation (FPHH). The KITLG gene encoding the KIT ligand protein is a disease-causing gene for FPHH. Various disease-causing gain-of-function mutations, which reside within or adjacent to the conserved VTNN motif of this gene, have been described to date. We have now identified a novel KITLG mutation, c.337G>A (p.Glu113Lys), in FPHH which is located within another ligand-receptor interaction site.

本文言語English
ページ(範囲)669-672
ページ数4
ジャーナルJournal of Dermatology
47
6
DOI
出版ステータスPublished - 01-06-2020

All Science Journal Classification (ASJC) codes

  • 皮膚病学

フィンガープリント

「Novel mutation in the KITLG gene in familial progressive hyperpigmentation with or without hypopigmentation」の研究トピックを掘り下げます。これらがまとまってユニークなフィンガープリントを構成します。

引用スタイル