Moniliform blepharosis in lipoid proteinosis with a homozygous ECM1 gene mutation

Selver Ozlem Barut; Palamar Melis; Onay Huseyin; Furundaoturan Onur; Akalin Taner; Noyan Mukaddes Aysin

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Moniliform blepharosis in lipoid proteinosis with a homozygous ECM1 gene mutation

机译：脂蛋白蛋白质发球菌的单均状脑膜病，具有纯合体ECM1基因突变

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来源
《Ophthalmic genetics》 |2018年第4期|共3页
作者
Selver Ozlem Barut; Palamar Melis; Onay Huseyin; Furundaoturan Onur; Akalin Taner; Noyan Mukaddes Aysin;
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作者单位

Ege Univ Dept Ophthalmol Izmir Turkey;

Ege Univ Dept Ophthalmol Izmir Turkey;

Ege Univ Dept Med Genet Izmir Turkey;

Ege Univ Dept Ophthalmol Izmir Turkey;

Ege Univ Dept Pathol Izmir Turkey;

Ege Univ Dept Psychiat Izmir Turkey;

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原文格式 PDF
正文语种 eng
中图分类眼科学;
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1. Moniliform blepharosis in lipoid proteinosis with a homozygous ECM1 gene mutation [J] . Selver Ozlem Barut, Palamar Melis, Onay Huseyin, Ophthalmic genetics . 2018,第4期

机译：脂蛋白蛋白质发球菌的单均状脑膜病，具有纯合体ECM1基因突变
2. Lipoid Proteinosis Due to Homozygous Deletion Mutation(c.735delTG)in the ECM1 Gene Presents with Seizures and Hoarseness but No Skin Involvement [J] . Vahidnezhad Hassan, Youssefian Leila, Tafakhori Abbas, 国际皮肤性病学杂志(英文) . 2020,第001期

机译：由于纯合的缺失突变（C.735Deltg）在ECM1基因中引起的脂蛋白蛋白病，癫痫发作和嘶嘶声，但没有皮肤受累
3. Homozygous frame shift mutation in ECM1 gene in two siblings with lipoid proteinosis [J] . Azam J Samdani, Abid Azhar, Syed M Shahid, Journal of Dermatological Case Reports . 2010,第4期

机译：两个同胞类脂蛋白病的兄弟姐妹ECM1基因纯合移码突变
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. Homozygous protein C deficiency: identification of a novel missense mutation that causes impaired secretion of the mutant protein C [D] . Yamamoto Koji, Matsushita Tadashi, Sugiura Isamu, 1992

机译：纯合蛋白C缺乏症：鉴定导致突变蛋白C分泌受损的新型错义突变
6. Homozygous frame shift mutation in ECM1 gene in two siblings with lipoid proteinosis [O] . Azam J Samdani, Abid Azhar, Syed M Shahid, 2010

机译：脂蛋白沉着症的两个兄弟姐妹ECM1基因的纯合移码突变
7. Homozygous frame shift mutation in ECM1 gene in two siblings with lipoid proteinosis [O] . Samdani, Azam J, Azhar, Abid, Shahid, Syed M, 2011

机译：脂蛋白沉着症的两个兄弟姐妹ECM1基因的纯合移码突变

Moniliform blepharosis in lipoid proteinosis with a homozygous ECM1 gene mutation

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