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An LMNB1 Duplication Caused Adult-Onset Autosomal Dominant Leukodystrophy in Chinese Family: Clinical Manifestations, Neuroradiology and Genetic Diagnosis.
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- Frontiers in Molecular Neuroscience, 2017, p. 1, doi. 10.3389/fnmol.2017.00215
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- Article
Whole exome sequencing identified a novel DAG1 mutation in a patient with rare, mild and late age of onset muscular dystrophy‐dystroglycanopathy.
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- Journal of Cellular & Molecular Medicine, 2019, v. 23, n. 2, p. 811, doi. 10.1111/jcmm.13979
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- Article
Whole Exome Sequencing Identified a Novel Heterozygous Mutation in HMBS Gene in a Chinese Patient With Acute Intermittent Porphyria With Rare Type of Mild Anemia.
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- Frontiers in Genetics, 2018, p. 1, doi. 10.3389/fgene.2018.00129
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- Article