| pubmed-article:9710043 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:9710043 | lifeskim:mentions | umls-concept:C0026850 | lld:lifeskim |
| pubmed-article:9710043 | lifeskim:mentions | umls-concept:C0079259 | lld:lifeskim |
| pubmed-article:9710043 | lifeskim:mentions | umls-concept:C0009691 | lld:lifeskim |
| pubmed-article:9710043 | lifeskim:mentions | umls-concept:C0017547 | lld:lifeskim |
| pubmed-article:9710043 | lifeskim:mentions | umls-concept:C0547040 | lld:lifeskim |
| pubmed-article:9710043 | lifeskim:mentions | umls-concept:C0332281 | lld:lifeskim |
| pubmed-article:9710043 | lifeskim:mentions | umls-concept:C1442161 | lld:lifeskim |
| pubmed-article:9710043 | pubmed:issue | 2 | lld:pubmed |
| pubmed-article:9710043 | pubmed:dateCreated | 1998-9-8 | lld:pubmed |
| pubmed-article:9710043 | 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. | lld:pubmed |
| pubmed-article:9710043 | pubmed:language | eng | lld:pubmed |
| pubmed-article:9710043 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9710043 | pubmed:citationSubset | AIM | lld:pubmed |
| pubmed-article:9710043 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9710043 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:9710043 | pubmed:month | Aug | lld:pubmed |
| pubmed-article:9710043 | pubmed:issn | 0028-3878 | lld:pubmed |
| pubmed-article:9710043 | pubmed:author | pubmed-author:ManfrediGG | lld:pubmed |
| pubmed-article:9710043 | pubmed:author | pubmed-author:TonaliPP | lld:pubmed |
| pubmed-article:9710043 | pubmed:author | pubmed-author:RicciEE | lld:pubmed |
| pubmed-article:9710043 | pubmed:author | pubmed-author:BertiniEE | lld:pubmed |
| pubmed-article:9710043 | pubmed:author | pubmed-author:ServideiSS | lld:pubmed |
| pubmed-article:9710043 | pubmed:author | pubmed-author:De LeoRR | lld:pubmed |
| pubmed-article:9710043 | pubmed:author | pubmed-author:MirabellaMM | lld:pubmed |
| pubmed-article:9710043 | pubmed:author | pubmed-author:GalluzziGG | lld:pubmed |
| pubmed-article:9710043 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:9710043 | pubmed:volume | 51 | lld:pubmed |
| pubmed-article:9710043 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:9710043 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:9710043 | pubmed:pagination | 592-5 | lld:pubmed |
| pubmed-article:9710043 | pubmed:dateRevised | 2004-11-17 | lld:pubmed |
| pubmed-article:9710043 | pubmed:meshHeading | pubmed-meshheading:9710043-... | lld:pubmed |
| pubmed-article:9710043 | pubmed:meshHeading | pubmed-meshheading:9710043-... | lld:pubmed |
| pubmed-article:9710043 | pubmed:meshHeading | pubmed-meshheading:9710043-... | lld:pubmed |
| pubmed-article:9710043 | pubmed:meshHeading | pubmed-meshheading:9710043-... | lld:pubmed |
| pubmed-article:9710043 | pubmed:meshHeading | pubmed-meshheading:9710043-... | lld:pubmed |
| pubmed-article:9710043 | pubmed:meshHeading | pubmed-meshheading:9710043-... | lld:pubmed |
| pubmed-article:9710043 | pubmed:meshHeading | pubmed-meshheading:9710043-... | lld:pubmed |
| pubmed-article:9710043 | pubmed:meshHeading | pubmed-meshheading:9710043-... | lld:pubmed |
| pubmed-article:9710043 | pubmed:meshHeading | pubmed-meshheading:9710043-... | lld:pubmed |
| pubmed-article:9710043 | pubmed:year | 1998 | lld:pubmed |
| pubmed-article:9710043 | pubmed:articleTitle | Giant dystrophin deletion associated with congenital cataract and mild muscular dystrophy. | lld:pubmed |
| pubmed-article:9710043 | pubmed:affiliation | Department of Neurology, Catholic University, Rome, Italy. | lld:pubmed |
| pubmed-article:9710043 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:9710043 | pubmed:publicationType | Case Reports | lld:pubmed |
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| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:9710043 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:9710043 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:9710043 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:9710043 | lld:pubmed |
