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| pubmed-article:17698709 | lifeskim:mentions | umls-concept:C0030705 | lld:lifeskim |
| pubmed-article:17698709 | lifeskim:mentions | umls-concept:C0031437 | lld:lifeskim |
| pubmed-article:17698709 | lifeskim:mentions | umls-concept:C0205182 | lld:lifeskim |
| pubmed-article:17698709 | lifeskim:mentions | umls-concept:C0596611 | lld:lifeskim |
| pubmed-article:17698709 | lifeskim:mentions | umls-concept:C1414209 | lld:lifeskim |
| pubmed-article:17698709 | lifeskim:mentions | umls-concept:C0758256 | lld:lifeskim |
| pubmed-article:17698709 | lifeskim:mentions | umls-concept:C0376249 | lld:lifeskim |
| pubmed-article:17698709 | lifeskim:mentions | umls-concept:C2603343 | lld:lifeskim |
| pubmed-article:17698709 | pubmed:issue | 8 | lld:pubmed |
| pubmed-article:17698709 | pubmed:dateCreated | 2007-8-16 | lld:pubmed |
| pubmed-article:17698709 | pubmed:abstractText | To describe the phenotypic spectrum of dysferlin (DYSF) gene mutations (which cause dysferlinopathies, autosomal recessive muscular dystrophies) in patients with a dysferlin protein deficiency. | lld:pubmed |
| pubmed-article:17698709 | pubmed:language | eng | lld:pubmed |
| pubmed-article:17698709 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:17698709 | pubmed:citationSubset | AIM | lld:pubmed |
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| pubmed-article:17698709 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:17698709 | pubmed:month | Aug | lld:pubmed |
| pubmed-article:17698709 | pubmed:issn | 0003-9942 | lld:pubmed |
| pubmed-article:17698709 | pubmed:author | pubmed-author:LévyNicolasN | lld:pubmed |
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| pubmed-article:17698709 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:17698709 | pubmed:volume | 64 | lld:pubmed |
| pubmed-article:17698709 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:17698709 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:17698709 | pubmed:pagination | 1176-82 | lld:pubmed |
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| pubmed-article:17698709 | pubmed:year | 2007 | lld:pubmed |
| pubmed-article:17698709 | pubmed:articleTitle | Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes. | lld:pubmed |
| pubmed-article:17698709 | pubmed:affiliation | Département de Génétique Médicale, Hôpital Timone, Marseille, France. karine.nguyen@ap-hm.fr | lld:pubmed |
| pubmed-article:17698709 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:17698709 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| pubmed-article:17698709 | pubmed:publicationType | Multicenter Study | lld:pubmed |
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