TY - GEN AU - Matamoros,N AU - Milà,J AU - Llano,M AU - Balas,A AU - Vicario,J L AU - Pons,J AU - Crespí,C AU - Martinez,N AU - Iglesias-Alzueta,J AU - López-Botet,M TI - Molecular studies and NK cell function of a new case of TAP2 homozygous human deficiency SN - 0009-9104 PY - 2001///0920 KW - ATP Binding Cassette Transporter, Subfamily B, Member 2 KW - ATP Binding Cassette Transporter, Subfamily B, Member 3 KW - ATP-Binding Cassette Transporters KW - genetics KW - Amino Acid Sequence KW - Cells, Cultured KW - Cysteine Endopeptidases KW - Cytotoxicity Tests, Immunologic KW - Histocompatibility Antigens Class I KW - metabolism KW - Homozygote KW - Humans KW - Immunophenotyping KW - K562 Cells KW - Killer Cells, Natural KW - immunology KW - Molecular Sequence Data KW - Multienzyme Complexes KW - Mutation KW - Proteasome Endopeptidase Complex KW - Proteins KW - Severe Combined Immunodeficiency KW - T-Lymphocyte Subsets KW - classification N1 - Publication Type: Case Reports; Journal Article UR - https://doi.org/10.1046/j.1365-2249.2001.01595.x ER -