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首页> 外文期刊>Balkan journal of medical genetics: BJMG >Five Novel Mutations in Cystinuria Genes SLC3A1 and SLC7A9

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Five Novel Mutations in Cystinuria Genes SLC3A1 and SLC7A9

机译：胱氨酸尿症基因SLC3A1和SLC7A9中的五个新型突变。

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《Balkan journal of medical genetics: BJMG》 |2009年第1期|共页
作者
D Plaseska-Karanfilska; E Baskin; G Efremov; K Popovska-Jankovic; P Miljkovic; R Bogdanovic; V Tasic;
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正文语种
中图分类遗传学;
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1. Identification of Novel Cystinuria Mutations and Polymorphisms in SLC3A1 and SLC7A9 Genes: Absence of SLC7A10 Gene Mutations in Cystinuric Patients [J] . ANTHOULA CHATZIKYRIAKIDOU, NIKOLAOS SOFIKITIS, IOANNIS GEORGIOU Genetic Testing . 2005,第3期

机译：SLC3A1和SLC7A9基因中的新型半胱氨酸尿症突变和多态性的鉴定：尿囊炎患者中不存在SLC7A10基因突变。
2. SLC7A9 cDNA cloning and mutational analysis of SLC3A1 and SLC7A9 in canine cystinuria [J] . Harnevik L, Hoppe A, Soderkvist P Mammalian genome: official journal of the International Mammalian Genome Society . 2006,第7期

机译：犬半胱氨酸尿症中SLC7A9 cDNA的克隆及SLC3A1和SLC7A9的突变分析
3. Heterogeneous mutations in the SLC3A1 and SLC7A9 genes in Chinese patients with cystinuria [J] . Y-P Yuen, C-W Lam, C-K Lai, Kidney international. . 2006,第1期

机译：中国胱氨酸尿症患者SLC3A1和SLC7A9基因的异质性突变
4. MutationView: An Integrated Knowledge Base for Mutations and Polymorphisms in Human Disease Genes - Automatical Extraction of Disease-Associated Knowledge - [C] . Masafumi Ohtsubo, Susumu Mitsuyama, Takashi Kawamura, International Conference on Genome Informatics . 2003

机译：突变视图：人类疾病基因突变和多态性的综合知识基础 - 疾病相关知识的自动提取 -
5. 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。
6. SLC3A1 and SLC7A9 Mutations in Autosomal Recessive or Dominant Canine Cystinuria: A New Classification System [O] . A.-K. Brons, P. S. Henthorn, K. Raj, -1

机译：常染色体隐性或优势犬半胱氨酸尿症的SLC3A1和SLC7A9突变：一种新的分类系统。
7. Heterogeneous mutations in the SLC3A1 and SLC7A9 genes in Chinese patients with cystinuria [O] . Tam, S, Yuen, YP, Lam, CW, 2006

机译：中国胱氨酸尿症患者sLC3a1和sLC7a9基因的异质性突变

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