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In this article, we will review the basic genetics, biochemistry and molecular structure of PMP22, followed by discussion of the current understanding of ...
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Mutations and altered gene dosage of the peripheral myelin protein (PMP22) gene in chromosome 17p11.2-12 are the main causes for hereditary neuropathies, ...
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Oct 1, 2018 · The PMP22 protein is a component of myelin, a protective substance that covers nerves and promotes the efficient transmission of nerve impulses.
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This test assesses for large deletions and duplications only. Highlights. This test may aid in the diagnosis of Charcot-Marie-Tooth type 1A or hereditary ...
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