Exploring the structural landscape of DNA maintenance proteins

KB Schou, S Mandacaru, M Tahir, N Tom… - Nature …, 2024 - nature.com
Evolutionary annotation of genome maintenance (GM) proteins has conventionally been
established by remote relationships within protein sequence databases. However, often no …

[HTML][HTML] 原发性卵巢发育不全一家系HROB 致病等位基因遗传学分析

吴兴汉, 彭湘云, 郑宇, 张树菊, 彭聿… - Journal of Zhejiang …, 2023 - ncbi.nlm.nih.gov
一例13 岁6 个月女童因月经未初潮就诊, 实验室检查提示卵泡刺激素及黄体生成素增高,
抗米勒管激素降低, 盆腔超声未发现双侧卵巢, 条索状子宫。 进一步完善患儿妹妹检查 …