[Oculocerebrorenal syndrome of Lowe].
作者信息
Owada M, Minowa A, Suhara Y
机构信息
Department of Pediatrics, Nihon University Surugadai Hospital.
出版信息
Ryoikibetsu Shokogun Shirizu. 1998(19 Pt 2):588-92.
PMID:9645142
Abstract
摘要
相似文献
1
[Oculocerebrorenal syndrome of Lowe].[洛氏眼脑肾综合征]
Ryoikibetsu Shokogun Shirizu. 1998(19 Pt 2):588-92.
2
[Cryptorchidism and chromosomal anomalies (Edwards, Patau, Lowe syndrome)].
Nihon Rinsho. 2006 Jun 28;Suppl 2:603-6.
3
[Lowe syndrome].
Nihon Rinsho. 2006 Sep 28;Suppl 3:468-72.
4
OCRL mutation analysis in Italian patients with Lowe syndrome.意大利洛氏综合征患者的OCRL基因突变分析。
Hum Mutat. 2004 May;23(5):524-5. doi: 10.1002/humu.9239.
5
[Lowe syndrome].[洛氏综合征]
Ryoikibetsu Shokogun Shirizu. 2001(36):473-6.
6
Inositol 5-phosphatases: insights from the Lowe syndrome protein OCRL.肌醇 5-磷酸酶：Lowe 综合征蛋白 OCRL 的研究进展。
Trends Biochem Sci. 2012 Apr;37(4):134-43. doi: 10.1016/j.tibs.2012.01.002. Epub 2012 Feb 28.
7
A novel OCRL1 gene mutation in a Turkish child with Lowe syndrome.一名患有 Lowe 综合征的土耳其儿童中发现一种新的 OCRL1 基因突变。
Turk J Pediatr. 2013 Jan-Feb;55(1):82-5.
8
Mutations in phosphoinositide metabolizing enzymes and human disease.磷酸肌醇代谢酶突变与人类疾病
Physiology (Bethesda). 2009 Feb;24:8-16. doi: 10.1152/physiol.00035.2008.
9
Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice.小鼠Inpp5b和OCRL1之间的功能重叠可能解释了为什么OCRL1在小鼠中的直系同源基因缺陷不会在小鼠中导致Lowe综合征。
J Clin Invest. 1998 May 15;101(10):2042-53. doi: 10.1172/JCI2414.
10
Lowe syndrome with anal atresia: a possible variant of OCRL?伴有肛门闭锁的洛氏综合征：OCRL的一种可能变体？
Pediatr Int. 2003 Apr;45(2):201-4. doi: 10.1046/j.1442-200x.2003.01697.x.
Zotero 插件