Article
Two novel Jk(null) alleles derived from 222C>A in Exon 5 and 896G>A in Exon 9 of the JK gene.
Transfusion - 1 Feb 2009
Liu Hsueng-Mei, Lin Jeong-Shi, Chen Pei-Shan, Lyou Jau-Yi, Chen Ying-Ju, Tzeng Cheng-Hwai
Abstract excerpt
BACKGROUND: Polynesian Jk(null) is well known for its mutation as Intron 5 g>a at the 3' splice acceptor site. After sequencing analysis, however, it was noticed that only three of eight samples with the Jknull phenotype carried typical homozygous Polynesian Jk(null) mutation. Five others were noted to be unreported heterozygous Polynesian Jk(null) mutation. An investigation was then conducted to characterize the...
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