Article
Splice-site contribution in alternative splicing of PLP1 and DM20: molecular studies in oligodendrocytes.
Human mutation - 1 Jan 2006
Hobson Grace M, Huang Zhong, Sperle Karen, Sistermans Erik, Rogan Peter K, Garbern James Y, Kolodny Edwin, Naidu Sakkubai, Cambi Franca
Abstract excerpt
Mutations in the proteolipid protein 1 (PLP1) gene cause the X-linked dysmyelinating diseases Pelizaeus-Merzbacher disease (PMD) and spastic paraplegia 2 (SPG2). We examined the severity of the following mutations that were suspected of affecting levels of PLP1 and DM20 RNA, the alternatively spliced products of PLP1: c.453G>A, c.453G>T, c.453G>C, c.453+2T>C, c.453+4A>G, c.347C>A, and c.453+28_+46del (the old...
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