论文信息 - Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex. - 字舞流文

Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex.

J. McGrath | J. Mellerio | Lu Liu | S. Aristodemou | L. Ozoemena | C. Moss | J. Y. Lee | M. Ogboli | C. Hsu | Anna E. Martinez

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[2] O. Sarig,et al. Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility , 2016, Nature Genetics.

[3] E. O’Toole,et al. Keratins and skin disease , 2015, Cell and Tissue Research.

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[5] E. Bruford,et al. Update on the Kelch-like (KLHL) gene family , 2013, Human Genomics.

[6] M. Jonkman,et al. Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients , 2011, The British journal of dermatology.