Cryptic splicing at a non-consensus splice-donor in a patient with a novel mutation in the plakophilin-1 gene.
Steijlen
Peter M
PM
van Steensel
Maurice A M
MA
Jansen
Bastiaan J H
BJ
Blokx
Willeke
W
van de Kerkhof
Peter C M
PC
Happle
Rudolf
R
van Geel
Michel
M
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*
C495335:PKP1 protein, human; D051191:Plakophilins; D011506:Proteins; D022821:RNA Splice Sites