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Hb Yokohama [beta 31 (B13)Leu----Pro] detected as a de novo mutation in a Yugoslavian boy.

作者信息

Plaseska D, Janković L, Dimovski A J, Milenović D, Juricić D, Efremov G D

机构信息

Macedonian Academy of Sciences and Arts Research Center for New Technologies, Skopje, Yugoslavia.

出版信息

Hemoglobin. 1991;15(6):469-76. doi: 10.3109/03630269109027894.

DOI:10.3109/03630269109027894
PMID:1814855
Abstract

Hb Yokohama [beta 31 (B13)Leu----Pro] was observed in a young Yugoslavian boy as a de novo mutation. The child exhibited severe transfusion-dependent hemolytic anemia. The variant was detected and quantitiated at 10.5% by reversed phase high performance liquid chromatography. In vitro globin chain synthesis showed a slight imbalance with an alpha/beta ratio of 1.38. Structural characterization of the abnormal beta chain was done by high performance liquid chromatographic analysis, on material obtained by high salt precipitation. The mutation was confirmed by sequencing of the amplified DNA.

摘要

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