Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping (Q34345703)

1 August 2017

title

Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping (English)

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1 August 2017

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C Ben Hamida

1

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1 August 2017

N Doerflinger

2

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S Belal

3

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C Linder

4

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L Reutenauer

5

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C Dib

6

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G Gyapay

7

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A Vignal

8

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D Le Paslier

9

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D Cohen

10

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publication date

1 October 1993

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1 August 2017

language of work or name

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volume

5

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1 August 2017

issue

2

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1 August 2017

page(s)

195-200

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VITAMIN E AND NEUROLOGICAL FUNCTION

1 August 2017

cites work

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https://api.crossref.org/works/10.1038%2FNG1093-195

7 January 2021

Neuromyopathy and vitamin E deficiency in man

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Spinocerebellar degeneration associated with a selective defect of vitamin E absorption

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Isolated deficiency of vitamin E with progressive neurologic deterioration

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Adult-onset spinocerebellar syndrome with idiopathic vitamin E deficiency

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7 January 2021

Friedreich's disease: V. Variant form with vitamin E deficiency and normal fat absorption

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7 January 2021

Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

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7 January 2021

A genetic linkage map of human chromosome 20 composed entirely of microsatellite markers

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Linkage map of human chromosome 9 microsatellite polymorphisms

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7 January 2021

A second-generation linkage map of the human genome

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https://api.crossref.org/works/10.1038%2FNG1093-195

7 January 2021

Human chromosome 8 linkage map based on short tandem repeat polymorphisms: effect of genotyping errors

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https://api.crossref.org/works/10.1038%2FNG1093-195

7 January 2021

Additional polymorphisms at marker loci D9S5 and D9S15 generate extended haplotypes in linkage disequilibrium with Friedreich ataxia

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https://api.crossref.org/works/10.1038%2FNG1093-195

7 January 2021

Construction and characterization of a yeast artificial chromosome library containing seven haploid human genome equivalents

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7 January 2021

Mapping the whole human genome by fingerprinting yeast artificial chromosomes

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Mapping human chromosomes by walking with sequence-tagged sites from end fragments of yeast artificial chromosome inserts

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7 January 2021

Homozygosity mapping and Werner's syndrome

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7 January 2021

Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q.

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7 January 2021

Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland

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7 January 2021

Magnetic bead capture of expressed sequences encoded within large genomic segments

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7 January 2021

Exon amplification: a strategy to isolate mammalian genes based on RNA splicing

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7 January 2021

Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients

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7 January 2021

Isolation of cDNA clones using yeast artificial chromosome probes

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7 January 2021

Impaired ability of patients with familial isolated vitamin E deficiency to incorporate alpha-tocopherol into lipoproteins secreted by the liver

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7 January 2021

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

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7 January 2021

Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features

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7 January 2021

A 530kb YAC contig tightly linked to the Friedreich ataxia locus contains five CpG clusters and a new highly polymorphic microsatellite

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7 January 2021

Identifiers

DOI

10.1038/NG1093-195

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Dimensions publication ID

1 August 2017

1036557966

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