A novel mutation in the TAP2 gene in bare lymphocyte syndrome: association with metastatic cutaneous squamous cell carcinoma.
España
Agustín
A
González-Santesteban
Cecilia
C
Martínez-Martínez
Laura
L
Bauzá
Ana
A
de la Calle-Martín
Oscar
O
D000071450:ATP Binding Cassette Transporter, Subfamily B, Member 3; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000328:Adult; D001706:Biopsy; D002294:Carcinoma, Squamous Cell / Q000150:complications / Q000235:genetics* / Q000556:secondary; D004273:DNA, Neoplasm / Q000235:genetics*; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation; D020133:Reverse Transcriptase Polymerase Chain Reaction; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis / Q000209:etiology / Q000235:genetics*; D012878:Skin Neoplasms / Q000150:complications / Q000235:genetics* / Q000473:pathology
D000071450:ATP Binding Cassette Transporter, Subfamily B, Member 3; D018528:ATP-Binding Cassette Transporters; D004273:DNA, Neoplasm; C071692:TAP2 protein, human