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First molecular evidence for a de novo mutation in RS1 (XLRS1) associated with X linked juvenile retinoschisis.

作者信息

Gehrig A, Weber B H, Lorenz B, Andrassi M

出版信息

J Med Genet. 1999 Dec;36(12):932-4.

PMID:10636740
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1734280/
Abstract
摘要

相似文献

1
First molecular evidence for a de novo mutation in RS1 (XLRS1) associated with X linked juvenile retinoschisis.与X连锁青少年视网膜劈裂症相关的RS1（XLRS1）基因新发突变的首个分子证据。
J Med Genet. 1999 Dec;36(12):932-4.
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X-Linked juvenile retinoschisis associated with a 4-base pair insertion at codon 55 of the XLRS1 gene.与XLRS1基因第55密码子处4个碱基对插入相关的X连锁青少年视网膜劈裂症。
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Acta Ophthalmol. 2021 Jun;99(4):e470-e479. doi: 10.1111/aos.14642. Epub 2020 Oct 30.
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Null retinoschisin-protein expression from an RS1 c354del1-ins18 mutation causing progressive and severe XLRS in a cross-sectional family study.在一项横断面家族研究中，由RS1 c354del1-ins18突变导致的进行性严重X连锁视网膜劈裂症中视网膜劈裂蛋白表达缺失。
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Retinoschisin, a new binding partner for L-type voltage-gated calcium channels in the retina.视网膜分裂蛋白，视网膜中L型电压门控钙通道的一种新结合伴侣。
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