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Article

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

19 Jan 2017

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 28111128
DOI: 10.1016/j.jid.2017.01.004

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Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa SimplexPMID 28111128Read ↗

Keratin 14 Degradation and Aging in Epidermolysis Bullosa Simplex due to KLHL24 Gain-of-Function Variants.Semantic proximity Read ↗

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Molecular heterogeneity of epidermolysis bullosa simplex: contribution of EXPH5 mutations.Semantic proximity Read ↗

The molecular genetics of dystrophic epidermolysis bullosa.Semantic proximity Read ↗

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Molecular Heterogeneity of Blistering Disorders: The Paradigm of Epidermolysis BullosaSemantic proximity Read ↗

Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24.Semantic proximity Read ↗

Plectin Mutations Underlie Epidermolysis Bullosa Simplex in 8% of PatientsSemantic proximity Read ↗

Epidermolysis bullosa: the expanding mutation database.Semantic proximity Read ↗

Next-generation sequencing: comprehensive genetic testing for epidermolysis bullosa.Semantic proximity Read ↗

Novel de novo mutation in KRT14 underlies a localized form of epidermolysis bullosa simplex.Semantic proximity Read ↗

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