K5 D328E: A Novel Missense Mutation in the Linker 12 Domain of Keratin 5 Associated with Epidermolysis bullosa simplex (Weber-Cockayne)

Mirjana Liovic,Bozana Podrumac,Vlasta Dragoš,Katja Vouk,Radovan Komel

K5 D328E: A Novel Missense Mutation in the Linker 12 Domain of Keratin 5 Associated with Epidermolysis bullosa simplex (Weber-Cockayne)

2000

Mirjana Liovic
Bozana Podrumac
Vlasta Dragoš
Katja Vouk
Radovan Komel

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). Direct sequencing identif

Keywords:

Genetics
Missense mutation
Keratin 5
Biology
Keratin
Epidermolysis bullosa
Intermediate filament
Epidermolysis bullosa simplex
Molecular biology
Linker
direct sequencing

Correction
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