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Fig. 2 | BMC Dermatology

Fig. 2

From: A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report

Fig. 2

Mutation analysis of the PLEC gene. a Sequence chromatogram on genomic DNA from the patient and from an unaffected individual (control). Black arrow shows the novel nonsense mutation: c.7159G > T (p.Glu2387*) in exon 31, according to the isoform 1c: NM_000445/NP_000336. b Schematic representation of plectin polypeptides presumably present in the patient (rodless truncated isoforms)

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BMC Dermatology

ISSN: 1471-5945

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