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Identification of a novel Cys146X mutation of SOD1 in familial amyotrophic lateral sclerosis by whol...

Identification of a novel Cys146X mutation of SOD1 in familial amyotrophic lateral sclerosis by whol...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1291614328

Identification of a novel Cys146X mutation of SOD1 in familial amyotrophic lateral sclerosis by whole-exome sequencing

About this item

Full title

Identification of a novel Cys146X mutation of SOD1 in familial amyotrophic lateral sclerosis by whole-exome sequencing

Publisher

New York: Nature Publishing Group US

Journal title

Genetics in medicine, 2012-09, Vol.14 (9), p.823-826

Language

English

Formats

Publication information

Publisher

New York: Nature Publishing Group US

More information

Scope and Contents

Contents

Purpose:
Familial amyotrophic lateral sclerosis has been linked to mutations in 15 genes, and it is believed these genes account for less than 20–30% of Chinese patients with familial amyotrophic lateral sclerosis. Of the 163 different superoxide dismutase 1 gene mutations in amyotrophic lateral sclerosis 1, only 6.1% of them were from individua...

Alternative Titles

Full title

Identification of a novel Cys146X mutation of SOD1 in familial amyotrophic lateral sclerosis by whole-exome sequencing

Authors, Artists and Contributors

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_1291614328

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1291614328

Other Identifiers

ISSN

1098-3600

E-ISSN

1530-0366

DOI

10.1038/gim.2012.50

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