A frameshift mutation in SANS results in atypical Usher syndrome.
作者信息
Bashir R, Fatima A, Naz S
出版信息
Clin Genet. 2010 Dec;78(6):601-3. doi: 10.1111/j.1399-0004.2010.01500.x.
Abstract
摘要
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本文引用的文献
1
A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome.SANS PDZ结合基序中的一种新型D458V突变导致非典型性Usher综合征。
J Mol Med (Berl). 2005 Dec;83(12):1025-32. doi: 10.1007/s00109-005-0719-4. Epub 2005 Nov 8.
2
A generalized skeletal hyperostosis in two siblings caused by a novel mutation in the SOST gene.由SOST基因的一种新突变导致的两名兄弟姐妹全身性骨骼骨质增生。
Bone. 2005 Jun;36(6):943-7. doi: 10.1016/j.bone.2005.02.019.
3
Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.对一组遗传性耳聋-视网膜色素变性综合征患者中Ⅰ型遗传性耳聋-视网膜色素变性综合征基因突变的特征分析
Hum Genet. 2005 Mar;116(4):292-9. doi: 10.1007/s00439-004-1227-2. Epub 2005 Jan 20.
4
Congenital lipoid adrenal hyperplasia caused by a novel splicing mutation in the gene for the steroidogenic acute regulatory protein.由类固醇生成急性调节蛋白基因中的一种新型剪接突变引起的先天性类脂性肾上腺增生。
J Clin Endocrinol Metab. 2004 Feb;89(2):946-51. doi: 10.1210/jc.2003-030345.
5
Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.I型Usher综合征G型（USH1G）是由编码SANS的基因突变引起的，SANS是一种与USH1C蛋白（harmonin）相关的蛋白质。
Hum Mol Genet. 2003 Mar 1;12(5):463-71. doi: 10.1093/hmg/ddg051.
6
Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice.一种新的支架蛋白Sans发生突变会导致杰克逊摇尾小鼠耳聋。
Hum Mol Genet. 2003 Mar 1;12(5):453-61. doi: 10.1093/hmg/ddg042.
7
An efficient procedure for genotyping single nucleotide polymorphisms.一种用于单核苷酸多态性基因分型的高效方法。
Nucleic Acids Res. 2001 Sep 1;29(17):E88-8. doi: 10.1093/nar/29.17.e88.
8
A perfect message: RNA surveillance and nonsense-mediated decay.一个完美的信息：RNA监测与无义介导的衰变
Cell. 1999 Feb 5;96(3):307-10. doi: 10.1016/s0092-8674(00)80542-5.
9
Clinical and molecular genetics of Usher syndrome.遗传性耳聋-视网膜色素变性综合征的临床与分子遗传学
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