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

Pub. Date : 2000 Jul-Aug

PMID : 10782015






2 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 A novel missense mutation was detected in the L12 region of keratin 5 (K5) in a Slovene family diagnosed with a Weber-Cockayne variant of epidermolysis bullosa simplex (EBS). simplex keratin 5 Homo sapiens
2 A novel missense mutation was detected in the L12 region of keratin 5 (K5) in a Slovene family diagnosed with a Weber-Cockayne variant of epidermolysis bullosa simplex (EBS). simplex keratin 5 Homo sapiens