Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis

Ana Bustamante-AragonesElena VallespinMarta Rodriguez de AlbaMaria Jose Trujillo-TiebasCristina Gonzalez-GonzalezDan Diego-AlvarezRosa Riveiro-AlvarezIsabel Lorda-SanchezCarmen AyusoCarmen Ramos

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Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis

机译：早期无创性产前检测到导致Leber先天性黑ama病的胎儿CRB1突变

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《Molecular vision》 |2008年第2008期|共页
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Ana Bustamante-AragonesElena VallespinMarta Rodriguez de AlbaMaria Jose Trujillo-TiebasCristina Gonzalez-GonzalezDan Diego-AlvarezRosa Riveiro-AlvarezIsabel Lorda-SanchezCarmen AyusoCarmen Ramos;
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中图分类生物化学;
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1. Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis [J] . Ayuso Carmen, Bustamante-Aragones Ana, Diego-Alvarez Dan, Molecular vision . 2008,第2008期

机译：早期无创性产前检测到导致Leber先天性黑ama病的胎儿CRB1突变
2. Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis [J] . Ana Bustamante-AragonesElena VallespinMarta Rodriguez de AlbaMaria Jose Trujillo-TiebasCristina Gonzalez-GonzalezDan Diego-AlvarezRosa Riveiro-AlvarezIsabel Lorda-SanchezCarmen AyusoCarmen Ramos Molecular vision . 2008,第2008期

机译：早期无创性产前检测到导致Leber先天性黑ama病的胎儿CRB1突变
3. Leber congenital amaurosis: first genotyped Hungarian patients and report of 2 novel mutations in the CRB1 and CEP290 genes [J] . Vamos Rita, Kuelm Maigi, Szabo Viktoria, European journal of ophthalmology . 2016,第1期

机译：莱伯先天性黑蒙症：匈牙利第一个基因型患者，并报告了CRB1和CEP290基因的两个新突变
4. Analysis of Retinal Degeneration in a Leber Congenital Amaurosis Mouse Model Using High Spatial Resolution MALDI-Imaging Mass Spectrometry [C] . David M. G. Anderson, Zsolt Ablonczy, Yiannis Koutalos, ASMS Conference on Mass Spectrometry and Allied Topics . 2016

机译：利用高空间分辨率MATDI成像质谱法分析LEBER先天性生物疲劳小鼠模型的视网膜变性
5. The Leber Congenital Amaurosis CEP290 Cat Model: Working Towards a Cure. [D] . Minella, Andrea Louise. 2017

机译：Leber先天性无门诊CEP290猫模型：正在努力治愈。
6. Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis [O] . Ana Bustamante-Aragones, Elena Vallespin, Marta Rodriguez de Alba, 2008

机译：早期无创性产前检测到导致Leber先天性黑ama病的胎儿CRB1突变
7. Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like Exudative Vasculopathy Are Associated with Mutations in the Crumbs Homologue 1 (CRB1) Gene [O] . Hollander, Anneke I. den, Heckenlively, John R., van den Born, L. Ingeborgh, 2001

机译：莱伯先天性阿莫鲁病和色素性视网膜炎与外套类渗出性血管病是与面包屑同源物1（CRB1）基因的突变相关。

Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis

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