DNA sequencing analysis
收藏NIAID Data Ecosystem2026-03-13 收录
下载链接：
https://www.ncbi.nlm.nih.gov/bioproject/PRJNA820369
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资源简介：
Pseudohypoparathyroidism (PHP) encompasses a highly heterogenous group of disorders, characterized by parathyroid hormone (PTH) resistance caused by mutations in the GNAS gene or other upstream targets. Here, we investigate the characteristics of a female patient diagnosed with PHP complicated with hypokalemia, and her family members. The patient was clinically diagnosed with PHP-1b and loss of methylation in the A/B region.
创建时间：
2022-03-27
