一个重组型弗里德赖希共济失调家族。 - Suppr

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超能文献

A recombinant Friedreich's ataxia family.

作者信息

Lucotte G, Berriche S, Turpin J C

机构信息

Regional Center of Neurogenetics, CHU-CHR of Reims, Robert Debré Hospital, France.

出版信息

Hum Genet. 1993 Apr;91(3):273-4. doi: 10.1007/BF00218270.

DOI:10.1007/BF00218270

PMID:8478010

Abstract

摘要

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A recombinant Friedreich's ataxia family.一个重组型弗里德赖希共济失调家族。

Hum Genet. 1993 Apr;91(3):273-4. doi: 10.1007/BF00218270.

Friedreich's ataxia. Revision of the phenotype according to molecular genetics.弗里德赖希共济失调。根据分子遗传学对表型的修订。

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Pseudodominant Friedreich's ataxia with phenotypic heterogeneity.具有表型异质性的假显性弗里德赖希共济失调

Acta Neurol Scand. 2007 May;115(5):364-6. doi: 10.1111/j.1600-0404.2007.00734.x.

Association of an ataxia indistinguishable from Friedreich's ataxia and congenital glaucoma in a family: a new syndrome.一个家族中出现与弗里德赖希共济失调难以区分的共济失调与先天性青光眼的关联：一种新综合征。

J Med Genet. 1988 Jan;25(1):44-6. doi: 10.1136/jmg.25.1.44.

Friedreich's ataxia in the elderly.老年人的弗里德赖希共济失调

J Int Med Res. 1995 Jan-Feb;23(1):74-84. doi: 10.1177/030006059502300109.

Friedreich's ataxia: preliminary results of some genealogical research.弗里德赖希共济失调：一些系谱研究的初步结果

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Genetic counseling in a French Friedreich's ataxia family.一个患Friedreich共济失调症的法裔家庭的遗传咨询

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A cluster of Friedreich's ataxia in Rimouski, Québec.

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本文引用的文献

Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features.弗里德赖希共济失调：对90个家庭的临床与遗传学研究，分析早期诊断标准及临床特征的家族内聚集情况。

Brain. 1981 Sep;104(3):589-620. doi: 10.1093/brain/104.3.589.

Mapping of mutation causing Friedreich's ataxia to human chromosome 9.导致弗里德赖希共济失调的突变基因定位到人类9号染色体。

Nature. 1988 Jul 21;334(6179):248-50. doi: 10.1038/334248a0.

Confirmation of linkage of Friedreich ataxia to chromosome 9 and identification of a new closely linked marker.弗里德赖希共济失调与9号染色体连锁的确认及一个新的紧密连锁标记的鉴定。

Genomics. 1989 Jan;4(1):110-1. doi: 10.1016/0888-7543(89)90323-6.

Identification of a hypervariable microsatellite polymorphism within D9S15 tightly linked to Friedrich's ataxia.在与弗里德赖希共济失调紧密连锁的D9S15内鉴定出一种高变微卫星多态性。

Hum Genet. 1990 Jun;85(1):98-100. doi: 10.1007/BF00276331.

The Friedreich ataxia gene is assigned to chromosome 9q13-q21 by mapping of tightly linked markers and shows linkage disequilibrium with D9S15.通过紧密连锁标记的定位，弗里德赖希共济失调基因被定位于9号染色体q13-q21区域，并且显示出与D9S15的连锁不平衡。

Am J Hum Genet. 1990 Jan;46(1):133-7.

Identification of CpG islands in a physical map encompassing the Friedreich's ataxia locus.在包含弗里德赖希共济失调基因座的物理图谱中鉴定CpG岛。

Genomics. 1991 Jan;9(1):90-5. doi: 10.1016/0888-7543(91)90224-3.

Additional polymorphisms at marker loci D9S5 and D9S15 generate extended haplotypes in linkage disequilibrium with Friedreich ataxia.标记位点D9S5和D9S15处的其他多态性产生了与弗里德赖希共济失调处于连锁不平衡状态的扩展单倍型。

Proc Natl Acad Sci U S A. 1990 Mar;87(5):1796-800. doi: 10.1073/pnas.87.5.1796.

Physical mapping of two loci (D9S5 and D9S15) tightly linked to Friedreich ataxia locus (FRDA) and identification of nearby CpG islands by pulse-field gel electrophoresis.与弗里德赖希共济失调基因座（FRDA）紧密连锁的两个基因座（D9S5和D9S15）的物理图谱绘制以及通过脉冲场凝胶电泳对附近CpG岛的鉴定。

Genomics. 1991 Aug;10(4):915-20. doi: 10.1016/0888-7543(91)90179-i.

Friedreich ataxia in Louisiana Acadians: demonstration of a founder effect by analysis of microsatellite-generated extended haplotypes.路易斯安那阿卡迪亚人中的弗里德赖希共济失调：通过分析微卫星产生的扩展单倍型证明奠基者效应。

Am J Hum Genet. 1992 Mar;50(3):559-66.

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