MUTATION相关论文
＜正＞Background and Aims:Hepatitis B virus immune escape gives a challenge to prevention,diagnoses and treatment to hepatit......
A homozygous protein-truncating mutation in ACTL7A causes male infertility characterized by fertiliz
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本文研究了三角范畴中的corigid子范畴的主要性质、corigid子范畴的左（右）mutation,得到corigid子范畴的左（右）mutation是corigid子范......
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Chinese patients with p.Arg756 mutations of ATP1A3: Clinical manifestations, treatment, and follow-u
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目的:分析初诊急性淋巴细胞白血病（ALL）患者融合基因的表达情况，进一步探讨融合基因阳性患者的实验室检查特点。方法:回顾性分析2016......
目的:分析小肠原发胃肠间质瘤(GIST)患者的临床病理特征、基因突变特点和预后的相关因素。方法:回顾性收集2011年1月1日至2019年12......
A comprehensive protocol for preimplantation genetic diagnosis(PGD) for patients with hemophilia B b
Objective Hemophilia B(HB) is the second most common form of hemophilia after hemophilia A. It is estimated that one in ......
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The first E59Q mutation identified in the NEUROD1 gene in a Chinese family with maturity-onset diabe
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Mutation profiles of classic myeloproliferative neoplasms detected by a customized next-generation s
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The low success rates in the treatment of multidrug-resistant tuberculosis (MDR-TB) and extensively drug-resistant TB (X......
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Relationship between the high frequency of 23S rRNA point mutations in Treponema pallidum and low se
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A novel missense mutation of the ubiquitin protein ligase E3A gene in a patient with Angelman syndro
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The mutation of insulin receptor substrate-1 gene in Chinese patients with non-insulin-dependent dia
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Unique GGT→GTT mutation at K-ras codon 12 in six human pancreatic cancer cell lines from Chinese pat
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Ethnic-specific splicing mutation of the carnitine-acylcarnitine translocase gene in a Chinese neona
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GJB2 (Cx26) gene mutations in Chinese patients with congenital sensorineural deafness and a report o
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Clinical and genetic features of International Collaborative Group-hereditary nonpolyposis colorecta
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