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■ Abbreviation / Long Form : KRT5 / keratin 5 gene

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Total Number of Papers: 7
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Abbreviation:   KRT5  (>> Co-occurring Abbreviation)
Long Form:   keratin 5 gene
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No. Year Title Co-occurring Abbreviation
2015 Novel keratin 5 mutation in a family with epidermolysis bullosa simplex. EBS, PCR
2012 A novel heterozygous nonsense mutation of keratin 5 in a Chinese family with Dowling-Degos disease. DDD
2010 Systematic mutation screening of KRT5 supports the hypothesis that Galli-Galli disease is a variant of Dowling-Degos disease. DDD, GGD
2006 Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease. DDD
2004 A new keratin 5 mutation (K199T) in a family with Weber-Cockayne epidermolysis bullosa simplex. ---
1999 Epidermolysis bullosa simplex with mottled pigmentation: clinical aspects and confirmation of the P24L mutation in the KRT5 gene in further patients. EBS-MP
1995 Epidermolysis bullosa simplex: a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton function. EBS-K, IF