High immunoglobulin E in a Chinese Papillon-Lefèvre syndrome patient with novel compound mutations of cathepsin C.
Xuan
X
Wen
Xinwen
X
Wang
Xiaohong
X
Duan
D044466:Asian People / Q000235:genetics; D020789:Cathepsin C / Q000235:genetics*; D018389:Codon, Nonsense; D005260:Female; D006801:Humans; D006942:Hypergammaglobulinemia / Q000201:enzymology / Q000235:genetics*; D007073:Immunoglobulin E / Q000097:blood*; D010214:Papillon-Lefevre Disease / Q000201:enzymology / Q000235:genetics / Q000276:immunology* / Q000473:pathology; D017354:Point Mutation; D055815:Young Adult
D018389:Codon, Nonsense; D007073:Immunoglobulin E; C533918:CTSC protein, human; D020789:Cathepsin C