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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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出版年: | J Invest Dermatol |
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主要な著者: | , , , , , , , , |
フォーマット: | Artigo |
言語: | Inglês |
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Nature Publishing Group
2015
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主題: | |
オンライン・アクセス: | 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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