title: Cryptic splicing at a non-consensus splice-donor in a patient with a novel mutation in the plakophilin-1 gene.
authors.forename: Peter M
authors.initials: PM
authors.lastname: Steijlen
authors.forename: Maurice A M
authors.initials: MA
authors.lastname: van Steensel
authors.forename: Bastiaan J H
authors.initials: BJ
authors.lastname: Jansen
authors.forename: Willeke
authors.initials: W
authors.lastname: Blokx
authors.forename: Peter C M
authors.initials: PC
authors.lastname: van de Kerkhof
authors.forename: Rudolf
authors.initials: R
authors.lastname: Happle
authors.forename: Michel
authors.initials: M
authors.lastname: van Geel
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D016384:Consensus Sequence; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D051191:Plakophilins; D017354:Point Mutation; D011506:Proteins / Q000235:genetics*; D022821:RNA Splice Sites / Q000235:genetics*; D012326:RNA Splicing / Q000235:genetics*; D012871:Skin Diseases / Q000235:genetics*
chemical_list: C495335:PKP1 protein, human; D051191:Plakophilins; D011506:Proteins; D022821:RNA Splice Sites