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Korean Monozygotic Twins with Lethal Acantholytic Epidermolysis Bullosa Caused by Two Novel DSP Mutations.

Annals of clinical and laboratory science - 1 Mar 2017

Kim Se Jin, Ko Jung Min, Shin Seung Han, Kim Ee-Kyung, Kim Han-Suk, Lee Kyung-A

Abstract excerpt

Desmoplakin is an essential cytoplasmic plaque protein in desmosomes, and it is the major linker between intercellular junctions in the skin and heart. The role of desmoplakin is anchoring transmembrane cadherins to cytoplasmic intermediate filaments. The desmoplakin gene (DSP) is located on chromosome 6, and six common allelic disorders are associated with this gene, including autosomal-dominant or -recessive...

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Identifiers

PMID: 28442525

Genes

DSP

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