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Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F
OBJECTIVE: To describe the features of 2 unrelated adults with xeroderma pigmentosum complementation group F (XP-F) ascertained in a neurology care setting. METHODS: We report the clinical, imaging, molecular, and nucleotide excision repair (NER) capacity of 2 middle-aged women with progressive neur...
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| 出版年: | Neurol Genet |
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| 主要な著者: | , , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Wolters Kluwer
2018
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5994703/ https://ncbi.nlm.nih.gov/pubmed/29892709 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000240 |
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