在一个患有诺里病的古巴大家族中，诺里病基因存在一个错义点突变（Leu13Arg）。 - Suppr

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超能文献

A missense point mutation (Leu13Arg) of the Norrie disease gene in a large Cuban kindred with Norrie disease.

作者信息

Fuchs S, Xu S Y, Caballero M, Salcedo M, La O A, Wedemann H, Gal A

机构信息

Institut für Humangenetik, Medizinische Universität, Lübeck, Germany.

出版信息

Hum Mol Genet. 1994 Apr;3(4):655-6. doi: 10.1093/hmg/3.4.655.

DOI:10.1093/hmg/3.4.655

PMID:8069314

Abstract

摘要

相似文献

A missense point mutation (Leu13Arg) of the Norrie disease gene in a large Cuban kindred with Norrie disease.在一个患有诺里病的古巴大家族中，诺里病基因存在一个错义点突变（Leu13Arg）。

Hum Mol Genet. 1994 Apr;3(4):655-6. doi: 10.1093/hmg/3.4.655.

Three novel and two recurrent mutations of the Norrie disease gene in patients with Norrie syndrome.诺里综合征患者中诺里病基因的三个新突变和两个复发突变。

Hum Mutat. 1996;8(1):85-8. doi: 10.1002/(SICI)1098-1004(1996)8:1<85::AID-HUMU15>3.0.CO;2-N.

Two novel mutations in the Norrie disease gene associated with the classical ocular phenotype.

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Identification of two new missense mutations (K58N and R121Q) in the Norrie disease (ND) gene in two Spanish families.

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[Keratotorus in Norrie disease].

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Characterization and mapping of the mouse NDP (Norrie disease) locus (Ndp).小鼠NDP（诺里病）基因座（Ndp）的特征分析与定位

Mamm Genome. 1996 Feb;7(2):93-7. doi: 10.1007/s003359900026.

Norrie-Warburg syndrome: two novel mutations in patients with classical clinical phenotype.诺里-沃堡综合征：具有典型临床表型患者的两个新突变

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The Norrie disease gene maps to a 150 kb region on chromosome Xp11.3.诺里病基因定位于X染色体短臂11.3区的一个150 kb区域。

Hum Mol Genet. 1992 May;1(2):83-9. doi: 10.1093/hmg/1.2.83.

Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins.

Nat Genet. 1992 Oct;2(2):139-43. doi: 10.1038/ng1092-139.

Peripheral retinopathy in offspring of carriers of Norrie disease gene mutations. Possible transplacental effect of abnormal Norrin.诺里病基因突变携带者后代的周边视网膜病变。异常诺里蛋白可能的经胎盘效应。

Ophthalmology. 1996 Dec;103(12):2128-34. doi: 10.1016/s0161-6420(96)30379-5.

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Spectrum of Mutations in Resulting in Ocular Disease; a Systematic Review.导致眼部疾病的突变谱；一项系统综述。

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Translational Control of Secretory Proteins in Health and Disease.分泌蛋白在健康和疾病中的翻译调控

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Silencing of Aberrant Secretory Protein Expression by Disease-Associated Mutations.疾病相关突变沉默异常分泌蛋白表达。

J Mol Biol. 2019 Jun 28;431(14):2567-2580. doi: 10.1016/j.jmb.2019.05.011. Epub 2019 May 14.

A novel contiguous deletion involving NDP, MAOB and EFHC2 gene in a patient with familial Norrie disease: bilateral blindness and leucocoria without other deficits.一名患有家族性诺里病的患者中涉及NDP、MAOB和EFHC2基因的一种新型连续性缺失：双侧失明和白瞳症，无其他缺陷。

J Genet. 2017 Dec;96(6):1015-1020. doi: 10.1007/s12041-017-0869-5.

Mutations in the Norrie disease gene: a new mutation in a Japanese family.诺里病基因的突变：一个日裔家庭中的新突变

Br J Ophthalmol. 1995 Jul;79(7):703-4. doi: 10.1136/bjo.79.7.703.

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