ACCUMULATION OF HETEROZYGOUS MUTATIONS ON HLH PATHOGENESIS

Sepulveda Fernando E.; Maschalidi Sophia; Menasche Gael; Fischer Alain; de Saint Basile Genevieve

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ACCUMULATION OF HETEROZYGOUS MUTATIONS ON HLH PATHOGENESIS

机译：HLH致病性中杂合突变的积累

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《Pediatric blood & cancer》 |2015年第3期|共2页
作者
Sepulveda Fernando E.; Maschalidi Sophia; Menasche Gael; Fischer Alain; de Saint Basile Genevieve;
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正文语种 eng
中图分类儿科学;
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1. ACCUMULATION OF HETEROZYGOUS MUTATIONS ON HLH PATHOGENESIS [J] . Sepulveda Fernando E., Maschalidi Sophia, Menasche Gael, Pediatric blood & cancer . 2015,第Suppla3期

机译：HLH致病性中杂合突变的积累
2. Explosive mutation accumulation triggered by heterozygous human Pol ε proofreading-deficiency is driven by suppression of mismatch repair [J] . Karl P Hodel, Richard de Borja, Erin E Henninger, eLife journal . 2018,第february期

机译：杂合性人Polε校对缺陷引起的爆发性突变积累是由错配修复的抑制引起的
3. Explosive mutation accumulation triggered by heterozygous human Pol ε proofreading-deficiency is driven by suppression of mismatch repair [J] . Karl P Hodel, Richard de Borja, Erin E Henninger, eLife journal . 2018,第november期

机译：杂合性人Polε校对缺陷引起的爆发性突变积累是由错配修复的抑制引起的
4. Deep Venoys Thrombosis of the Lower Extremity In a 16-Year-OIcl Girl with Homozygous MTHFR- and Heterozygous Factor? Leiden-Mutation [C] . B. Roschitz, W. Muntean, C. Mannhalter, Hemophilie-Symposion . 2004

机译：一个16岁女孩纯合的MTHFR和杂合因子的16岁女孩下肢深静脉血栓形成？莱顿突变
5. Investigation of daily four month sildenafil administration on heterozygous carriers of a phosphodiesterase 6 mutation in a canine model of autosomal recessive retinitis pigmentosa. [D] . Pierce, Kenneth E., Jr. 2011

机译：在常染色体隐性遗传性视网膜炎的犬模型中，每天四个月西地那非对磷酸二酯酶6突变的杂合子载体给药的研究。
6. Heterozygous β‐globin gene mutations as a risk factor for iron accumulation and liver fibrosis in chronic hepatitis C [O] . Massimo Sartori, Silvano Andorno, Michela Pagliarulo, 2007

机译：杂合子β-珠蛋白基因突变是慢性丙型肝炎铁累积和肝纤维化的危险因素
7. Heterozygous β‐globin gene mutations as a risk factor for iron accumulation and liver fibrosis in chronic hepatitis C [O] . Sartori, Massimo, Andorno, Silvano, Pagliarulo, Michela, 2007

机译：杂合子β-珠蛋白基因突变是慢性丙型肝炎铁累积和肝纤维化的危险因素

ACCUMULATION OF HETEROZYGOUS MUTATIONS ON HLH PATHOGENESIS

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