(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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8 February 2018

Huda Zoghbi

10

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8 February 2018

author name string

Banfi S

1

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8 February 2018

Servadio A

2

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8 February 2018

Chung MY

3

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8 February 2018

Kwiatkowski TJ Jr

4

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8 February 2018

McCall AE

5

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8 February 2018

Duvick LA

6

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8 February 2018

Shen Y

7

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8 February 2018

Roth EJ

8

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8 February 2018

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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8 February 2018

volume

7

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8 February 2018

issue

4

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8 February 2018

page(s)

513-520

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8 February 2018

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

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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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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

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

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7 January 2021

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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7 January 2021

Identifiers

DOI

10.1038/NG0894-513

1 reference

8 February 2018

Dimensions Publication ID

1018842126

0 references

1 reference

8 February 2018