Novel keratin 14 hotspot mutation in Dowling-Meara type of epidermolysis bullosa simplex: strategy to avoid KRT14 pseudogene amplification by a simple approach.
Monika
M
Ołdak
Cezary
C
Kowalewski
Radosław B
RB
Maksym
Katarzyna
K
Woźniak
Agnieszka
A
Pollak
Marta
M
Podgórska
Artur
A
Wnorowski
Joanna
J
Kosińska
Rafał
R
Płoski
D000293:Adolescent; D001483:Base Sequence; D024141:Collagen Type IV / Q000737:chemistry; D017931:DNA Primers / Q000737:chemistry / Q000235:genetics; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics*; D005091:Exons; D006801:Humans; D039663:Integrin beta4 / Q000096:biosynthesis; D007438:Introns; D053547:Keratin-14 / Q000235:genetics*; D008856:Microscopy, Fluorescence / Q000379:methods; D008969:Molecular Sequence Data; D009154:Mutation; D011544:Pseudogenes; D012867:Skin / Q000473:pathology
D024141:Collagen Type IV; D017931:DNA Primers; D039663:Integrin beta4; D053547:Keratin-14