Homo sapiens Raw sequence reads. Homo sapiens
收藏NIAID Data Ecosystem2026-03-13 收录
下载链接：
https://www.ncbi.nlm.nih.gov/bioproject/PRJNA808627
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资源简介：
We reported a rare case of familial pseudohyperkalemia with a heterozygous c.1123C>T, p. R375W mutation in the ABCB6 gene ascertained by genetic analysis. FP is characterized by increased permeability of potassium through the red cell membrane at reduced temperatures and normal permeability at 37 degree centigrade . This is the first FP case to be reported in Chinese population.
创建时间：
2022-02-19
