Missense mutations of the fibrillin-1 gene in two Chinese patients with severe Marfan syndrome

Ivan F. M. LO; Rosanna M. S WONG; Fanny W.F. LAM

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Missense mutations of the fibrillin-1 gene in two Chinese patients with severe Marfan syndrome

机译：两名中国严重马凡氏综合症患者fibrillin-1基因的错义突变

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To describe two Chinese patients with severe forms of Marfan syndrome and to report findings of mutational analysis of the fibrillin-1 (FBN1) gene. Methods Two Chinese patients were studied, one suffering from Marfan syndrome of infantile onset and The other of neonatal onset. Their clinical features were described. Mutational analysis of the FBN1 gene Was performed using polymerase chain reaction (PCR) technique and direct sequencing of exons 23-32, Where the mutational hotspots for severe forms of Marfan syndrome are located.

机译：描述两名患有严重马氏综合症的中国患者，并报告原纤维蛋白-1（FBN1）基因突变分析的结果。方法对两名中国患者进行研究，一名患有小儿马芬综合征，另一名患有新生儿。描述了他们的临床特征。使用聚合酶链反应（PCR）技术对外显子23-32进行直接测序，对FBN1基因进行突变分析，该突变体是严重范氏综合征的突变热点所在。

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来源
《Chinese Medical Journal》 |2001年第5期|p.473-476|共4页
作者
Ivan F. M. LO; Rosanna M. S WONG; Fanny W.F. LAM;
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原文格式 PDF
正文语种 eng
中图分类医药、卫生;
关键词
Marfan syndrome; fibrillin-1; mutation;

机译：马凡综合症;fibrillin-1;突变;

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1. Missense mutations of the fibrillin-1 gene in two Chinese patients with severe Marfan syndrome [J] . 中华医学杂志（英文版） . 2001,第005期

机译：两名中国严重马凡氏综合症患者fibrillin-1基因的错义突变
2. Two rare missense mutations in the fibrillin-1 gene associated with atypical cardiovascular manifestations in a Chinese patient affected by Marfan syndrome [J] . Zhang Miao, Zhou Yaqi, Peng Yang, Molecular medicine reports . 2018,第1aPta2期

机译：在由Marfan综合征影响的中国患者中与非典型心血管表现相关的雌激素-1基因中的两个罕见的畸形突变
3. A novel fibrillin-1 gene missense mutation associated with neonatal Marfan syndrome: a case report and review of the mutation spectrum [J] . Qian Peng, Yan Deng, Yuan Yang, BMC Pediatrics . 2016,第1期

机译：与新生儿马凡氏综合征相关的新的原纤维蛋白1基因错义突变：病例报告和突变谱的审查。
4. GENOTYPE-PHENOTYPE CORRELATION IN PATIENTS WITH FIBRILLIN-1 GENE MUTATIONS [C] . Christian Baumgartner, Daniela Baumgartner, Martin Eberle, Biomedical Engineering . 2005

机译：Fibrillin-1基因突变患者的基因型与表型相关性
5. Mutation and epigenetic modulation of gene expression within plexiform lesions in patients with severe pulmonary hypertension. [D] . Yeager, Michael Eric. 2003

机译：严重肺动脉高压患者丛状病变内基因表达的突变和表观遗传调控。
6. Two rare missense mutations in the fibrillin-1 gene associated with atypical cardiovascular manifestations in a Chinese patient affected by Marfan syndrome [O] . Miao Zhang, Yaqi Zhou, Yang Peng, -1

机译：一名患有马凡氏综合症的中国患者中纤维蛋白-1基因的两个罕见错义突变与非典型心血管表现有关
7. Recurrent and founder mutations in the Netherlands: Extensive clinical variability in Marfan syndrome patients with a single novel recurrent fibrillin-1 missense mutation [O] . Aalberts J.J.J., Schuurman A.G., Pals G., 100

机译：荷兰的复发性和创始性突变：具有单一新型复发性原纤维蛋白1错义突变的Marfan综合征患者的广泛临床变异性

Missense mutations of the fibrillin-1 gene in two Chinese patients with severe Marfan syndrome

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