2020年3月18日
Novel mutation in the KITLG gene in familial progressive hyperpigmentation with or without hypopigmentation.
The Journal of dermatology
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- 巻
- 47
- 号
- 6
- 開始ページ
- 669
- 終了ページ
- 672
- 記述言語
- 英語
- 掲載種別
- 研究論文(学術雑誌)
- DOI
- 10.1111/1346-8138.15313
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.
- ID情報
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- DOI : 10.1111/1346-8138.15313
- PubMed ID : 32189379