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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
2
|
| pubmed:dateCreated |
1998-9-8
|
| pubmed:abstractText |
We report a patient with a large intragenic dystrophin deletion of exons 17-51 inclusive associated with congenital cataract and mild Becker muscular dystrophy. The cataract was similar to the congenital cataract described in the mdx mouse. The loss of 68% of the rod domain including hinge 2 and 3 regions did not adversely affect the correct localization of the dystrophin and the association with the dystrophin-associated glycoprotein complex. This observation may have implications for minigenes suitable for gene therapy.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
AIM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Aug
|
| pubmed:issn |
0028-3878
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
51
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
592-5
|
| pubmed:dateRevised |
2004-11-17
|
| pubmed:meshHeading |
pubmed-meshheading:9710043-Cataract,
pubmed-meshheading:9710043-Child,
pubmed-meshheading:9710043-Dystrophin,
pubmed-meshheading:9710043-Exons,
pubmed-meshheading:9710043-Gene Deletion,
pubmed-meshheading:9710043-Humans,
pubmed-meshheading:9710043-Male,
pubmed-meshheading:9710043-Muscular Dystrophies,
pubmed-meshheading:9710043-Polymerase Chain Reaction
|
| pubmed:year |
1998
|
| pubmed:articleTitle |
Giant dystrophin deletion associated with congenital cataract and mild muscular dystrophy.
|
| pubmed:affiliation |
Department of Neurology, Catholic University, Rome, Italy.
|
| pubmed:publicationType |
Journal Article,
Case Reports
|