Identification and characterization of the gene causing type 1 spinocerebellar ataxia (Q48080540)

8 February 2018

title

Identification and characterization of the gene causing type 1 spinocerebellar ataxia (English)

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8 February 2018

author

Harry T. Orr

9

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Huda Zoghbi

10

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author name string

Banfi S

1

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Servadio A

2

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Chung MY

3

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Kwiatkowski TJ Jr

4

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McCall AE

5

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Duvick LA

6

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Shen Y

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Roth EJ

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language of work or name

English

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publication date

1 August 1994

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8 February 2018

published in

Nature Genetics

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volume

7

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issue

4

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page(s)

513-520

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Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.

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Spinocerebellar ataxia: study of a large kindred. I. General information and genetics

21 January 2018

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7 January 2021

Spinocerebellar ataxia in a large kindred: age at onset, reproduction, and genetic linkage studies

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7 January 2021

Spinocerebellar ataxia: variable age of onset and linkage to human leukocyte antigen in a large kindred.

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7 January 2021

Spinocerebellar ataxia and HLA linkage: risk prediction by HLA typing

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7 January 2021

Mapping and cloning of the critical region for the spinocerebellar ataxia type 1 gene (SCA1) in a yeast artificial chromosome contig spanning 1.2 Mb.

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7 January 2021

Presymptomatic analysis of spinocerebellar ataxia type 1 (SCA1) via the expansion of the SCA1 CAG-repeat in a large pedigree displaying anticipation and parental male bias.

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7 January 2021

Structure of the gene for human coagulation factor V

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DNA sequence of the human apolipoprotein B gene

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A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.

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7 January 2021

Differential 3' polyadenylation of the Huntington disease gene results in two mRNA species with variable tissue expression

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Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy.

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Effect of the myotonic dystrophy (DM) mutation on mRNA levels of the DM gene

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Complete deletion of the androgen receptor gene: definition of the null phenotype of the androgen insensitivity syndrome and determination of carrier status

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"A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum

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Removal of repeated sequences from hybridisation probes

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Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.

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Construction of T-vectors, a rapid and general system for direct cloning of unmodified PCR products

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The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions

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Identifiers

DOI

10.1038/NG0894-513

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8 February 2018

Dimensions Publication ID

1018842126

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8 February 2018