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Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 12, Iss , Pp 420-432 (2018)
DNA variants of the proteolipid protein 1 gene (PLP1) that shift PLP1/DM20 alternative splicing away from the PLP1 form toward DM20 cause the allelic X-linked leukodystrophies Pelizaeus-Merzbacher disease (PMD), spastic paraplegia 2 (SPG2), and hypom
Externí odkaz:
https://doaj.org/article/ae4b04d5955d4494bee09829f7158e04