Novel mutations of the POLR3A gene caused POLR3-related leukodystrophy in a Chinese family: A case report

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Novel mutations of the POLR3A gene caused POLR3-related leukodystrophy in a Chinese family: A case report

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POLR3-related leukodystrophy is an autosomal recessive neurodegenerative disorder characterized by onset time ranging from the neonatal period to late childhood, progressive motor decline that manifests as spasticity, ataxia, tremor, and cerebellar symptoms, as well as mild cognitive regression and hypodontia. | Novel mutations of the POLR3A gene caused POLR3-related leukodystrophy in a Chinese family: A case report

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Novel mutations of the POLR3A gene caused POLR3-related leukodystrophy in a Chinese family: A case report

Antimicrobial resistance and novel mutations detected in the gyrA and parC genes of Pseudomonas aeruginosa strains isolated from companion dogs

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Đang chuẩn bị liên kết để tải về tài liệu: Novel mutations of the POLR3A gene caused POLR3-related leukodystrophy in a Chinese family: A case report

Antimicrobial resistance and novel mutations detected in the gyrA and parC genes of Pseudomonas aeruginosa strains isolated from companion dogs

Báo cáo hóa học: " Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations"

Leveraging protein quaternary structure to identify oncogenic driver mutations

New insights into the generation and role of de novo mutations in health and disease

A novel deleterious PTEN mutation in a patient with early-onset bilateral breast cancer

Báo cáo khoa học: "Clinical implications of novel activating EGFR mutations in malignant peritoneal mesothelioma"

Báo cáo y học: "Three novel beta-galactosidase gene mutations in Han Chinese patients with GM1 gangliosidosis are correlated with disease severity"

báo cáo khoa học: "P-loop mutations and novel therapeutic approaches for imatinib failures in chronic myeloid leukemia"

Báo cáo y học: " Infection with hepatitis B virus carrying novel pre-S/S gene mutations in female siblings vaccinated at birth: two case reports"

Báo cáo khoa học: Functional and structural characterization of novel mutations and genotype–phenotype correlation in 51 phenylalanine hydroxylase deﬁcient families from Southern Italy

Đang chuẩn bị liên kết để tải về tài liệu:
Novel mutations of the POLR3A gene caused POLR3-related leukodystrophy in a Chinese family: A case report