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Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

机译：涉及Cockayne综合征的CSB / ERCC6和CSA / ERCC8基因的突变更新。

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MMNP

机译：MMNP

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Laugel Vincent; Dalloz Cécile; Durand M.; Sauvanaud Florence; Kristensen Hans-Ulrik; Vincent Marie-Claire; Pasquier Laurent; Odent Sylvie; Cormier-Daire Valérie; Gener Blanca; Tobias Edward Spencer; Tolmie John Lorimer; Martin-Coignard Dominique; Drouin-Garraud Valérie; Heron Delphine; Journel Hubert; Raffo Emmanuel; Vigneron Jaqueline; Lyonnet Stanislas; Murday Victoria Alice; Gubser-Mercati Danielle; Funalot Benoît; Brueton Louise; Sanchez Del Pozo Jaime; Muñoz E.; Gennery Andrew; Salih M.; Noruzinia Mehrdad; Prescott K.; Ramos L.; Stark Zornitza; Fieggen Karen; Chabrol Brigitte; Sarda Pierre; Edery Patrick; Bloch-Zupan Agnès; Fawcett H.; Pham Danièle; Egly Jean-Marc; Lehmann Alan; Sarasin Alain; Dollfus Hélène;
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1. Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. [J] . Laugel V, Dalloz C, Durand M, Human mutation . 2010,第2期

机译：涉及Cockayne综合征的CSB / ERCC6和CSA / ERCC8基因的突变更新。
2. Novel Missense Mutations in a Conserved Loop Between ERCC6 (CSB) Helicase Motifs V and VI: Insights Into Cockayne Syndrome [J] . Wilson Brian T., Lochan Anneline, Stark Zornitza, American journal of medical genetics, Part A . 2016,第3期

机译：ERCC6（CSB）解旋酶基序V和VI之间的保守环中的新型错义突变：洞悉Cockayne综合征。
3. Mutations in Cockayne Syndrome-Associated Genes (Csa and Csb) Predispose to Cisplatin-Induced Hearing Loss in Mice [J] . Rainey Robert N., Ng Sum-yan, Llamas Juan, The Journal of Neuroscience: The Official Journal of the Society for Neuroscience . 2016,第17期

机译：Cockayne综合征相关基因（Csa和Csb）的突变易诱发顺铂诱导的小鼠听力丧失。
4. Diverse mechanisms of human genetic disease: Splice order determination in the COL1A2 gene. Effects that influence splice site mutations in osteogenesis imperfecta and a translocation disrupting SNRPN gene causes Prader-Willi syndrome. [D] . Kuslich, Christine D. 1999

机译：人类遗传疾病的多种机制：COL1A2基因的剪接顺序确定。影响成骨不全症中剪接位点突变和易位破坏SNRPN基因的效应会导致Prader-Willi综合征。
5. Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. [O] . D L Mallery, B Tanganelli, S Colella, 1998

机译：Cockayne综合征患者CSB（ERCC6）基因突变的分子分析。
6. Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. [O] . Laugel Vincent, Dalloz Cécile, Durand M., 2010

机译：涉及Cockayne综合征的CSB / ERCC6和CSA / ERCC8基因的突变更新。
7. JSC Exit Presentation: Effects of Genetics and Mutations on Acquired Long QT Syndrome. [R] . McFadden, R. 2014

机译：JsC退出演示：遗传和突变对获得性长QT综合征的影响。

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

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