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Mutations in the Norrie disease gene: a new mutation in a Japanese family.

作者信息

Isashiki Y, Ohba N, Yanagita T, Hokita N, Hotta Y, Hayakawa M, Fujiki K, Tanabe U

出版信息

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

DOI:10.1136/bjo.79.7.703
PMID:7662640
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC505203/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf8d/505203/9cb95cb6f61d/brjopthal00019-0082-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf8d/505203/6b2927cc4d55/brjopthal00019-0081-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf8d/505203/1768dff11228/brjopthal00019-0082-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf8d/505203/ab5f38cce463/brjopthal00019-0082-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf8d/505203/9cb95cb6f61d/brjopthal00019-0082-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf8d/505203/6b2927cc4d55/brjopthal00019-0081-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf8d/505203/1768dff11228/brjopthal00019-0082-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf8d/505203/ab5f38cce463/brjopthal00019-0082-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf8d/505203/9cb95cb6f61d/brjopthal00019-0082-c.jpg

相似文献

1
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.
2
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.
3
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
Acta Ophthalmol Scand Suppl. 1996(219):13-6. doi: 10.1111/j.1600-0420.1996.tb00374.x.
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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.
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Identification of two new missense mutations (K58N and R121Q) in the Norrie disease (ND) gene in two Spanish families.
Hum Mol Genet. 1993 Nov;2(11):1953-5. doi: 10.1093/hmg/2.11.1953.
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Norrie disease resulting from a gene deletion: clinical features and DNA studies.因基因缺失导致的诺里病:临床特征与DNA研究
J Med Genet. 1988 Feb;25(2):73-8. doi: 10.1136/jmg.25.2.73.
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Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy.在与一例X连锁和四例散发型家族性渗出性玻璃体视网膜病变相关的诺里病基因中鉴定新的错义突变。
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Submicroscopic interstitial deletion of the X chromosome explains a complex genetic syndrome dominated by Norrie disease.
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A novel mutation in the Norrie disease gene predicted to disrupt the cystine knot growth factor motif.诺里病基因中的一种新型突变,预计会破坏胱氨酸结生长因子基序。
Hum Mol Genet. 1995 Nov;4(11):2179-80. doi: 10.1093/hmg/4.11.2179.
10
Linkage analysis of Norrie disease with X-chromosomal ornithine aminotransferase.诺里病与X染色体鸟氨酸转氨酶的连锁分析。
Trans Am Ophthalmol Soc. 1992;90:405-79.

引用本文的文献

1
Familial cases of Norrie disease detected by copy number analysis.通过拷贝数分析检测到的诺里病家族病例。
Jpn J Ophthalmol. 2014 Sep;58(5):448-54. doi: 10.1007/s10384-014-0334-4. Epub 2014 Jul 15.
2
Novel nonsense mutation (Tyr44stop) of the Norrie disease gene in a Japanese family.一个日裔家族中诺里病基因的新型无义突变(Tyr44stop)
Br J Ophthalmol. 2002 Dec;86(12):1452-3. doi: 10.1136/bjo.86.12.1452.

本文引用的文献

1
Identification of two new missense mutations (K58N and R121Q) in the Norrie disease (ND) gene in two Spanish families.
Hum Mol Genet. 1993 Nov;2(11):1953-5. doi: 10.1093/hmg/2.11.1953.
2
A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy.与X连锁家族性渗出性玻璃体视网膜病变相关的诺里病基因(NDP)突变。
Nat Genet. 1993 Oct;5(2):180-3. doi: 10.1038/ng1093-180.
3
Identification of a nonsense mutation at codon 128 of the Norrie's disease gene in a male infant.在一名男婴中鉴定出诺里病基因第128密码子处的一个无义突变。
Arch Ophthalmol. 1993 Nov;111(11):1553-7. doi: 10.1001/archopht.1993.01090110119036.
4
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.
5
Novel mutation at the initiation codon in the Norrie disease gene in two Japanese families.两个日本家族中诺里病基因起始密码子处的新型突变。
Hum Genet. 1995 Jan;95(1):105-8. doi: 10.1007/BF00225085.
6
Mutations in the candidate gene for Norrie disease.
Hum Mol Genet. 1992 Oct;1(7):461-5. doi: 10.1093/hmg/1.7.461.
7
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.
8
Isolation and characterization of a candidate gene for Norrie disease.
Nat Genet. 1992 Jun;1(3):204-8. doi: 10.1038/ng0692-204.
9
Isolation of a candidate gene for Norrie disease by positional cloning.通过定位克隆分离诺里病的一个候选基因。
Nat Genet. 1992 Jun;1(3):199-203. doi: 10.1038/ng0692-199.