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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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書誌詳細
出版年:Neurol Genet
主要な著者: Shanbhag, Niraj M., Geschwind, Michael D., DiGiovanna, John J., Groden, Catherine, Godfrey, Rena, Yousefzadeh, Matthew J., Wade, Erin A., Niedernhofer, Laura J., Malicdan, May Christine V., Kraemer, Kenneth H., Gahl, William A., Toro, Camilo
フォーマット: Artigo
言語:Inglês
出版事項: Wolters Kluwer 2018
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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