Work

Clinical and pathological features of neutral lipid storage disease with myopathy caused by a IVS6 + 1 splicing mutation in the PNPLA2 gene

Year: 2017

Type: article

Source: Journal of the Neurological Sciences

DOI: 10.1016/j.jns.2017.08.2293

Authors: Y. Lu, Y. Da

Institutions: Capital Medical University, Xuan Wu Hospital of the Capital Medical University

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W2771953787

FWCI:

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