In-frame Exon Skipping in KRT5 due to Novel Intronic Deletion Causes Epidermolysis Bullosa Simplex, Generalized Severe
Acta Derm Venereol
.
2017 Jan 4;97(1):105-107.
doi: 10.2340/00015555-2451.
Authors
Katarzyna B Gostyńska
1
,
Jeroen Bremer
,
Krista K van Dijk-Bos
,
Richard Sinke
,
Anna Maria G Pasmooij
,
Marcel F Jonkman
Affiliation
1
Department of Dermatology, University of Groningen, University Medical Center Groningen, 9700RB Groningen, The Netherlands. k.gostynska@umcg.nl.
PMID:
27136972
DOI:
10.2340/00015555-2451
No abstract available
Publication types
Case Reports
MeSH terms
Epidermolysis Bullosa Simplex / genetics*
Exons
Female
Gene Deletion
Humans
Introns
Keratin-5 / genetics*
Middle Aged
Pedigree
Phenotype
Polymerase Chain Reaction
Substances
Keratin-5