[The role of AKT inhibitors combined with Ruxolitinib in ameliorating myeloproliferative disorders in mice with CALR gene mutations]. [PDF]
Zhonghua Xue Ye Xue Za ZhiZhang LW +6 more
europepmc +1 more source
[Role and clinical significance of MUC4 gene mutations in thrombotic events in patients with classic paroxysmal nocturnal hemoglobinuria]. [PDF]
Zhonghua Xue Ye Xue Za Zhi, 2023 Chen YY +14 more
europepmc +1 more source
由LHCGR基因杂合突变(M398T)所致家族性男性限性性早熟
Zhongshan Daxue xuebao. Yixue kexue ban, 2012 【目的】 总结由LHCGR基因激活性杂合突变导致的家族性男性限性性早熟(FMPP),提高临床医生对该病的诊治水平?【方法】 报道3例经LHCGR基因突变分析确诊的FMPP病例,并对相关文献进行复习?【结果】 病例1和病例3均为5岁男童,因外生殖器增大伴生长加速来诊?经相关检查临床诊断为外周性同性性早熟,其中,病例1有明显的家族史,4代中有6人(包括病例1的父亲,即病例2)有类似病史,成年身高在155 ~ 164.5 cm?LHCGR基因检测发现3例均存在LHCGR基因第11外显子相同的杂合点突变:c ...
doaj
[A family report on congenital fibrosis of extraocular muscles syndrome caused by <i>TUBB3</i> gene mutation]. [PDF]
Zhong Nan Da Xue Xue Bao Yi Xue BanLi M, Qi X, Li Y, Tong B.
europepmc +1 more source
Snijders Blok-Campeau syndrome caused by CHD3 gene mutation: a case report. [PDF]
Zhongguo Dang Dai Er Ke Za Zhi, 2021 Fan XY.
europepmc +1 more source
一新的水稻多蘖矮秆突变体<italic>tddl (t)</italic> 的分离及基因的精细定位 [PDF]
, 2009 晓辉 刘 +7 more
openalex +1 more source
乙型肝炎病毒ＢＣＰ、ＰｒｅＣ和Ｃ区基因突变与母婴传播免疫失败的相关性
Zhongshan Daxue xuebao. Yixue kexue ban, 2013 【目的】 探讨ＢＣＰ、ＰｒｅＣ和Ｃ区基因突变率及突变热点与ＨＢＶ母婴传播免疫失败的关系。【方法】 选取血清ＨＢｓＡｇ阳性且ＨＢＶ ＤＮＡ定量＞１０００Ｕ／ｍＬ的孕妇，以所分娩的新生儿是否发生免疫失败和孕妇血清ＨＢＶ ＤＮＡ定量水平将孕妇分为免疫失败组（１９例）和对照１组（免疫成功且ＨＢＶ－ＤＮＡ定量≥１．０ × １０７ Ｕ／ｍＬ，４８例）、对照２组（免疫成功且ＨＢＶ－ＤＮＡ定量＜１．０ × １０７ Ｕ／ｍＬ，３８例）。对３组孕妇血中ＨＢＶ进行ＢＣＰ／ＰｒｅＣ／Ｃ区基因ＰＣＲ扩增和测序 ...
doaj
[Childhood acute lymphoblastic leukemia with CREBBP gene mutation: a clinical analysis of 14 cases]. [PDF]
Zhongguo Dang Dai Er Ke Za ZhiJia XP +6 more
europepmc +1 more source
Relationship of PI3K-Akt/mTOR/AMPK signaling pathway genetic mutation with efficacy and prognosis in nasopharyngeal carcinoma. [PDF]
Zhong Nan Da Xue Xue Bao Yi Xue Ban, 2022 Chen Y +5 more
europepmc +1 more source