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Clinical and Molecular Characterization of Achromatopsia Patients: A Longitudinal Study
Achromatopsia (ACHM) is a rare genetic disorder of infantile onset affecting cone photoreceptors. To determine the extent of progressive retinal changes in achromatopsia, we performed a detailed longitudinal phenotyping and genetic characterization of an Italian cohort comprising 21 ACHM patients (1...
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| 出版年: | Int J Mol Sci |
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| 主要な著者: | , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
MDPI
2021
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7914547/ https://ncbi.nlm.nih.gov/pubmed/33562422 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms22041681 |
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