What is the diagnosis? A 2-year-old child refuses to walk |
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Authors: | G Grau Bolado MP Angulo Barreras P Gortazar Arias A Urberuaga Pascual C Garaizar Axpe A Sojo Aguirre |
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Affiliation: | Department of Pathology, University Hospital Utrecht, The Netherlands. |
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Abstract: | A new DPB1 allele has been identified in a Caucasoid individual, DPB1*7601. The sequence of the complete second exon has been confirmed by cloning and subsequent sequencing. This allele differs by one amino acid, at codon 36, from DPB1*1401, as indicated by SBT and PCR-SSP analysis. The amino-acid motif introduced by the change is shared by DPB1*0401 and some rare alleles. It remains unclear whether the change is due to interallelic microgen conversion or a single point mutation. |
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