Source:http://linkedlifedata.com/resource/pubmed/id/10651486
Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
3
|
| pubmed:dateCreated |
2000-1-24
|
| pubmed:abstractText |
A study of choroideremia gene was performed in Spanish families affected with this disorder. One abnormal pattern was detected in exon eight corresponding to a new mutation not described before. The mutation was identified as a nonsense mutation S340X.
|
| 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 |
213
|
| pubmed:dateRevised |
2006-11-15
|
| pubmed:meshHeading | |
| pubmed:year |
1998
|
| pubmed:articleTitle |
First mutation (S340X) in choroideremia gene in a Spanish family. Mutations in brief no. 173. Online.
|
| pubmed:affiliation |
Department of Genetics, Fundación Jiménez Díaz, Madrid. gentical@uni.fjd.es
|
| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|