Antenatal diagnosis of Lowe syndrome.

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作者信息

Sethi Sidharth Kumar, Lunardi Joel, Kabra Madhulika, Deka Deepika, Bagga Arvind

出版信息

Clin Exp Nephrol. 2010 Jun;14(3):296-7. doi: 10.1007/s10157-010-0267-2. Epub 2010 Feb 17.

DOI:10.1007/s10157-010-0267-2

PMID:20162319

Abstract

摘要

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引用本文的文献

The oculocerebrorenal syndrome of Lowe: an update.洛氏眼脑肾综合征：最新进展。

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本文引用的文献

Mutations in OCRL1 gene in Indian children with Lowe syndrome.患有 Lowe 综合征的印度儿童 OCRL1 基因的突变

Clin Exp Nephrol. 2008 Oct;12(5):358-362. doi: 10.1007/s10157-008-0059-0. Epub 2008 May 24.

Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene.Lowe综合征家庭中生殖系嵌合体的特征分析以及OCRL1基因七个新突变的鉴定。

Am J Hum Genet. 1999 Jul;65(1):68-76. doi: 10.1086/302443.

Prenatal diagnosis of Lowe syndrome by OCRL1 messenger RNA analysis.通过OCRL1信使核糖核酸分析进行洛氏综合征的产前诊断。

Prenat Diagn. 1999 Mar;19(3):269-70. doi: 10.1002/(sici)1097-0223(199903)19:3<269::aid-pd519>3.0.co;2-l.

First report of prenatal biochemical diagnosis of Lowe syndrome.洛氏综合征产前生化诊断的首例报告。

Prenat Diagn. 1998 Nov;18(11):1117-21. doi: 10.1002/(sici)1097-0223(199811)18:11<1117::aid-pd413>3.0.co;2-q.

Physical mapping and genomic structure of the Lowe syndrome gene OCRL1.劳氏综合征基因OCRL1的物理图谱和基因组结构

Hum Genet. 1997 Feb;99(2):145-50. doi: 10.1007/s004390050329.

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