Source:http://linkedlifedata.com/resource/pubmed/id/10627134
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
1
|
| pubmed:dateCreated |
2000-1-5
|
| pubmed:abstractText |
In this study we have carried out a mutational screening of exons 62-79 of the dystrophin gene by SSCP in 38 Italian patients with DMD/BMD and found two novel mutations at exon 70, in 2 mentally retarded DMD patients.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:issn |
1059-7794
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
12
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
70
|
| pubmed:dateRevised |
2011-11-17
|
| pubmed:meshHeading |
pubmed-meshheading:10627134-Dystrophin,
pubmed-meshheading:10627134-Genetic Predisposition to Disease,
pubmed-meshheading:10627134-Genetic Testing,
pubmed-meshheading:10627134-Humans,
pubmed-meshheading:10627134-Intellectual Disability,
pubmed-meshheading:10627134-Italy,
pubmed-meshheading:10627134-Mutation,
pubmed-meshheading:10627134-Peptides
|
| pubmed:year |
1998
|
| pubmed:articleTitle |
Two novel mutations (10410 T-->G; 10296 del C) at carboxy-terminus of the dystrophin gene associated with mental retardation. Mutations in brief no. 149. Online.
|
| pubmed:affiliation |
Istituto di Clinica E Biologia dell'Eta' Evolutuva, Universitá degli studi di Cagliari.
|
| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|