Hepatoerythropoietic Porphyria Caused by a Novel Homoallelic Mutation in Uroporphyrinogen Decarboxylase Gene in Egyptian Patients

M. S. FARRAG; I. MIKULA; E. RICHARD; V. SAUDEK; H. DE VERNEUIL; P. MARTáSEK

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Hepatoerythropoietic Porphyria Caused by a Novel Homoallelic Mutation in Uroporphyrinogen Decarboxylase Gene in Egyptian Patients

机译：埃及患者尿尿素原原脱羧酶基因的一个新的等位基因突变引起的肝造血卟啉症。

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Hepatoerythropoietic Porphyria Caused by a Novel Homoallelic Mutation in Uroporphyrinogen Decarboxylase Gene in Egyptian Patients(hepatoerythropoietic porphyria / HEP / uroporphyrinogen decarboxylase / UROD / skin photosensitivity / red urine.

机译：埃及患者尿卟啉原脱羧酶基因的一个新的等位基因突变引起的肝造血卟啉症

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《Folia biologica》 |2015年第6期|共8页
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M. S. FARRAG; I. MIKULA; E. RICHARD; V. SAUDEK; H. DE VERNEUIL; P. MARTáSEK;
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hepatoerythropoietic porphyriaHEPuroporphyrinogen decarboxylaseURODskin photosensitivityred urine;

机译：肝红细胞生成性卟啉症HEP尿卟啉原脱羧酶UROD皮肤光敏性红尿;

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专利

1. Hepatoerythropoietic Porphyria Caused by a Novel Homoallelic Mutation in Uroporphyrinogen Decarboxylase Gene in Egyptian Patients [J] . Folia biologica . 1999,第6期

机译：埃及患者尿尿素原原脱羧酶基因的一个新的等位基因突变引起的肝造血卟啉症。
2. Two novel uroporphyrinogen decarboxylase (URO-D) mutations causing hepatoerythropoietic porphyria (HEP). [J] . Phillips JD, Whitby FG, Stadtmueller BM, Translational research: the journal of laboratory and clinical medicine . 2007,第2期

机译：两种新的尿卟啉原脱羧酶（URO-D）突变引起肝红细胞生成性卟啉症（HEP）。
3. Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations [J] . Weiss Yedidyah, Chen Brenden, Yasuda Makiko, Molecular genetics and metabolism . 2019,第3期

机译：卟啉区蛋白塔达达和肝细胞卟啉区：鉴定19个新型尿红素素III脱羧酶突变
4. Sarcomere protein gene mutations and inherited heart disease: a beta-cardiac myosin heavy chain mutation causing endocardial fibroelastosis and heart failure [C] . Mitsuhiro Kamisago, Joachim P. Schmitt, Dennis McNamara, Symposium on heart failure: Molecules, mechanisms and therapeutic targets . 2006

机译：Sarcomere蛋白质基因突变和遗传性心脏病：β-心肌肌苷重链突变导致心内膜肌肌瘤和心力衰竭
5. A Multi-Scale Computational Approach to Understand the Calcium Dynamics and Arrhythmogenic Disorders Caused by Mutations in RYR2/CASQ2 Expressing Genes [D] . Paudel, Roshan. 2020

机译：一种多规模的计算方法，了解Ryr2 / Casq2在表达基因中突变引起的钙动力学和心律发生障碍
6. Hepatoerythropoietic porphyria due to a novel mutation in the uroporphyrinogen decarboxylase gene [O] . J. To-Figueras, J. Phillips, J.M. Gonzalez-López, -1

机译：Hepatoerythropoietic卟啉症由于在尿卟啉原脱羧酶基因的新型突变
7. A Mutation (G281E) of the Human Uroporphyrinogen Decarboxylase Gene Causes Both Hepatoerythropoietic Porphyria and Overt Familial Porphyria Cutanea Tarda: Biochemical and Genetic Studies on Spanish Patients [O] . Roberts Andrew G., Elder George H., de Salamanca Rafael E., 1995

机译：人类尿卟啉原脱羧酶基因的突变（G281E）导致肝红细胞生成性卟啉症和明显的家族性卟啉单胞菌皮肤性皮肤炎：西班牙患者的生化和遗传研究

Hepatoerythropoietic Porphyria Caused by a Novel Homoallelic Mutation in Uroporphyrinogen Decarboxylase Gene in Egyptian Patients

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