为什么阵发性睡眠性血红蛋白尿症多发生在夜间？ - 知乎
2016年9月1日 · 阵发性睡眠性血红蛋白尿症（paroxysmal nocturnal hemoglobinuria，PNH）是一种罕见的获得性疾病，其特征是由不受控制的补体激活引起的慢性血管内溶血。 该病通常被 …
Paroxysmal Nocturnal Hemoglobinuria Caused By Pigt Mutations; Atypical PNH
2016年12月2日 · Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired GPI-anchor deficiency caused by the somatic mutation of PIGA gene in a hematopoietic stem cell (PIGA …
Paroxysmal Nocturnal Hemoglobinuria Caused By Pigt Mutations; Atypical PNH
2016年12月2日 · Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired GPI-anchor deficiency caused by the somatic mutation of PIGA gene in a hematopoietic stem cell (PIGA …
罕见病（13）：阵发性睡眠性血红蛋白尿伴自身炎症的临床表现与 …
2024年11月21日 · pigt-pnh 首发的是自身炎症性症状，包括：复发性荨麻疹、关节痛、发热、无菌性脑膜炎 [3] 。通常在自身炎症性症状持续数年后，逐渐出现 pnh 相关症状。
Paroxysmal Nocturnal Haemoglobinuria (PNH) Arising from Non …
2023年11月2日 · Acquired somatic mutations in the X-linked PIGA gene are the most commonly described pathological mutations found in the serious haematopoietic disorder paroxysmal …
Paroxysmal nocturnal hemoglobinuria caused by CN-LOH of …
2020年11月11日 · Paroxysmal nocturnal hemoglobinuria (PNH) is a rare hematopoietic stem cell (HSC) disorder characterized by defective synthesis of the glycosylphosphatidylinositol (GPI) …
Mutational landscape and its clinical significance in paroxysmal ...
2021年3月16日 · Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder caused by mutation of the X-linked PIGA gene, resulting in a...
PIGTを責任遺伝子とする発作性夜間ヘモグロビン尿症（PNH）の …
発作性夜間ヘモグロビン尿症 (PNH)は造血幹細胞のX染色体上の PIGA 遺伝子の突然変異により発症する血液疾患で溶血発作を主症状とする。 GPI-AP生合成と修飾に関わる遺伝子は27個 …
PIG-A mutations in paroxysmal nocturnal hemoglobinuria and …
A rare clonal hematopoietic stem cell disease, paroxysmal nocturnal hemoglobinuria (PNH), is caused by mutations in the PIG-A gene. PNH is an acquired disease that may arise de novo or …
A case of paroxysmal nocturnal hemoglobinuria caused by a ... - PubMed
2013年8月15日 · Although a single mutation event in the X-chromosomal gene PIGA is known to cause GPI-anchored protein deficiency, 2 such hits are required in the autosomal gene PIGT. …
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