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Efficiency of Exome Sequencing for the Molecular Diagnosis of Pseudoxanthoma Elasticum
The molecular etiology of pseudoxanthoma elasticum (PXE), an autosomal recessive connective tissue disorder, has become increasingly complex as not only mutations in ATP-binding cassette family C member 6 (ABCC6) but also ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) and gamma-glutamyl...
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| Опубликовано в: : | J Invest Dermatol |
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| Главные авторы: | , , , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Nature Publishing Group
2015
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4378258/ https://ncbi.nlm.nih.gov/pubmed/25264593 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/jid.2014.421 |
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