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Biallelic WRN Mutations in Newly Identified Japanese Werner Syndrome Patients
Werner syndrome (WS) is a rare autosomal recessive disorder characterized by systemic accelerated aging. It is caused by pathogenic variants of the WRN gene that encodes a nuclear helicase. In this report, we describe 4 newly identified WS cases among those referred to the Japanese Werner Consortium...
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| Vydáno v: | Mol Syndromol |
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| Hlavní autoři: | , , , , , , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
S. Karger AG
2018
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6103371/ https://ncbi.nlm.nih.gov/pubmed/30140198 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000489055 |
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