Novel human pathological mutations. Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.

作者信息

Riveiro-Alvarez Rosa, Trujillo-Tiebas M J, Gimenez A, Cantalapiedra D, Vallespin E, Aguirre-Lamban J, Villaverde C, Ayuso C

机构信息

Fundacion Jimenez Diaz, Department Genetics, Madrid, Spain.

出版信息

Hum Genet. 2007 Jun;121(5):647.

PMID:17879437

Abstract

摘要

相似文献

Novel human pathological mutations. Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.

Hum Genet. 2007 Jun;121(5):647.

Gene symbol: RS1. Disease: Retinoschisis, X-Linked juvenile.基因符号：RS1。疾病：X连锁青少年性视网膜劈裂症。

Hum Genet. 2008 Jun;123(5):551.

Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.

Hum Genet. 2005 Dec;118(3-4):535.

Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.

Hum Genet. 2005 Dec;118(3-4):536.

Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.

Hum Genet. 2005 Dec;118(3-4):536.

Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.

Hum Genet. 2005 Dec;118(3-4):535.

Gene symbol: RS1. Disease: Retinoschisis, X linked juvenile.基因符号：RS1。疾病：X连锁青少年性视网膜劈裂症。

Hum Genet. 2008 Oct;124(3):307-8.

[Detection and prenatal diagnosis for RS1 gene mutations in two Chinese families with X-linked juvenile retinoschisis].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Apr;30(2):199-202. doi: 10.3760/cma.j.issn.1003-9406.2013.04.017.

Four Japanese male patients with juvenile retinoschisis: only three have mutations in the RS1 gene.四名患有青少年视网膜劈裂症的日本男性患者：只有三个人的RS1基因发生了突变。

Am J Ophthalmol. 2004 Nov;138(5):788-98. doi: 10.1016/j.ajo.2004.06.031.

Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.基因符号：RS1。疾病：X连锁青少年视网膜劈裂症。

Hum Genet. 2005 Dec;118(3-4):534.

引用本文的文献

Comprehensive analysis of genetic and clinical characteristics of 30 patients with X-linked juvenile retinoschisis in China.中国 30 例 X 连锁青少年性视网膜劈裂症患者的遗传和临床特征综合分析。

Acta Ophthalmol. 2021 Jun;99(4):e470-e479. doi: 10.1111/aos.14642. Epub 2020 Oct 30.

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