Linked Life Data

21416271

Source:http://linkedlifedata.com/resource/pubmed/id/21416271

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2011-4-14
pubmed:abstractText
Autosomal recessive spastic ataxia of Charlevoix-Saguenay is a distinct form of hereditary early-onset spastic ataxia caused by cerebellum and spinal cord degeneration. The SACS gene has been demonstrated to be responsible for the disease through worldwide description of different mutations. We report here a computational analysis of a novel SACS gene mutation identified in a Tunisian family, using workflow implemented on the BioExtract Server. Several online computational tools are currently available to explore the effect of novel identified mutations in human and other organisms. Such analysis is time-consuming and generates a batch of files that researchers need to extract and save. The BioExtract Server workflow described here offers an easy way to execute the required tools together, avoiding entering queries independently in each web tool or service.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
1559-1166
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
44
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
53-8
pubmed:meshHeading
pubmed:year
2011
pubmed:articleTitle
Computational analysis of a novel SACS gene mutation with BioExtract server.
pubmed:affiliation
Computer Science Department, University of South Dakota, 414 E. Clark St., Vermillion, SD 57069, USA. yosr.bouhlal@gmail.com
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, Non-P.H.S., Research Support, Non-U.S. Gov't