Two novel splicing mutations in the XPA gene in patients with group A xeroderma pigmentosum.
Satokata
I
I
Institute for Molecular and Cellular Biology, Osaka University, Japan.
Uchiyama
M
M
Tanaka
K
K
D017398:Alternative Splicing; D001483:Base Sequence; D002478:Cells, Cultured; D017931:DNA Primers; D004260:DNA Repair / Q000235:genetics; D004268:DNA-Binding Proteins / Q000096:biosynthesis / Q000235:genetics*; D005091:Exons; D005347:Fibroblasts / Q000378:metabolism; D015870:Gene Expression; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger / Q000096:biosynthesis; D012867:Skin / Q000378:metabolism; D014983:Xeroderma Pigmentosum / Q000235:genetics*; D051760:Xeroderma Pigmentosum Group A Protein
D017931:DNA Primers; D004268:DNA-Binding Proteins; D012333:RNA, Messenger; C497314:XPA protein, human; D051760:Xeroderma Pigmentosum Group A Protein