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Article

A keratin K5 mutation (Leu 463-->Pro) in a family with the Weber-Cockayne type of epidermolysis bullosa simplex.

Archives of dermatological research - 1 Jul 1997

Nomura K, Umeki K, Meng X, Tamai K, Sawamura D, Hosokawa M, Miyazawa T, Funayama M, Hashimoto I

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Share to Amino Acid Sequence
Share to Child, Preschool
Share to Epidermolysis Bullosa Simplex
Share to Keratins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 9266030
DOI: 10.1007/s004030050228

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Related research

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Research trail→

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A keratin K5 mutation (Leu 463-->Pro) in a family with the Weber-Cockayne type of epidermolysis bullosa simplex.PMID 9266030Read ↗

K5 D328E: a novel missense mutation in the linker 12 domain of keratin 5 associated with epidermolysis bullosa simplex (Weber-Cockayne).Semantic proximity Read ↗

Novel keratin 5 mutations in epidermolysis bullosa simplex: cases with unusual genotype-phenotype correlation.Semantic proximity Read ↗

A novel mutation in the helix termination peptide of keratin 5 causing epidermolysis bullosa simplex Dowling-Meara.Semantic proximity Read ↗

A common keratin 5 gene mutation in epidermolysis bullosa simplex--Weber-Cockayne.Semantic proximity Read ↗

Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex.Semantic proximity Read ↗

p.Glu477Lys mutation in keratin 5 is not necessarily mortal in generalized severe epidermolysis bullosa simplex.Semantic proximity Read ↗

Severe epidermolysis bullosa simplex phenotype caused by codominant mutations p.Ile377Thr in keratin 14 and p.Gly138Glu in keratin 5.Semantic proximity Read ↗

A novel mutation in the L12 domain of keratin 5 in the Köbner variant of epidermolysis bullosa simplex.Semantic proximity Read ↗

Epidermolysis Bullosa Simplex (Dowling-Meara Type) Is a Genetic Disease Characterized by an Abnormal Keratin-Filament Network Involving Keratins K5 and K14Semantic proximity Read ↗

Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function.Semantic proximity Read ↗

A novel keratin 5 mutation (K5V186L) in a family with EBS-K: a conservative substitution can lead to development of different disease phenotypes.Semantic proximity Read ↗

A novel keratin K5 gene mutation in Dowling-Meara epidermolysis bullosa simplex.Semantic proximity Read ↗

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