title: Description of HLA-A*0127N, a novel nonexpressed allele identified by SBT.
abstract: We describe the isolation and characterization of a novel HLA-A null allele, officially named A*0127N. The A*0127N exon 2, 3, and 4 nucleotide sequence is identical to that of A*010101 except at position 553, where a G is substituted by a T, resulting in a coding change in exon 3 (GAG>TAG) from Glu to the stop codon AMB. The mutation described is responsible for the premature ending of the translation.
authors: Dipartimento di Medicina Rigenerativa, Immunologia dei Trapianti di Organi e Tessuti, Fondazione IRCCS Ospedale Maggiore Policlinico, Mangiagalli, Regina Elena, Via Francesco Sforza 35, 20122 Milan, Italy.
authors: Elena
authors: E
authors: Longhi
authors: Sara
authors: S
authors: Frison
authors: Emanuela
authors: E
authors: Andreini
authors: Katerina
authors: K
authors: Karpasitou
authors: Marta
authors: M
authors: Serafini
authors: Francesca
authors: F
authors: Poli
mesh_terms: D000483:Alleles; D001483:Base Sequence; D005091:Exons / Q000235:genetics; D015234:HLA-A Antigens / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data
chemical_list: D015234:HLA-A Antigens