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Article

Novel Ala94Thr mutation of keratin 14 in epidermolysis bullosa simplex.

International journal of dermatology - 1 Oct 2014

Zeng Kang, Duan Yan, Liang Yan-Hua

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Identifiers

PMID: 25040198
DOI: 10.1111/ijd.12594

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Related research

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Novel Ala94Thr mutation of keratin 14 in epidermolysis bullosa simplex.PMID 25040198Read ↗

A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplexSemantic proximity Read ↗

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A recurrent keratin 14 mutation in Dowling-Meara epidermolysis bullosa simplex in a Chinese family.Semantic proximity Read ↗

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

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

A novel KRT14 null mutation leads to autosomal recessive epidermolysis bullosa simplex.Semantic proximity Read ↗

Novel keratin 14 hotspot mutation in Dowling-Meara type of epidermolysis bullosa simplex: strategy to avoid KRT14 pseudogene amplification by a simple approach.Semantic proximity Read ↗

Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa SimplexSemantic proximity Read ↗

EBS in Children with De Novo Pathogenic Variants Disturbing Krt14.Semantic proximity Read ↗

Novel KRT14 mutation in a Taiwanese patient with epidermolysis bullosa simplex (Köbner type).Semantic proximity Read ↗

Coexistence of KRT14 and KRT5 mutations in a Polish patient with epidermolysis bullosa simplex.Semantic proximity Read ↗

Autosomal recessive epidermolysis bullosa simplex due to KRT14 mutation: two large Palestinian families and literature review.Semantic proximity Read ↗

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