形式 |
The EPM2A gene, which encodes laforin, is mutated in an autosomal recessive form of adolescent progressive myoclonus epilepsy. The protein encoded by this gene binds to laforin, but its function is not known. This gene is intronless.
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復(fù)溶 |
Use of expression data and the CGEMS genome-wide breast cancer association study to identify genes that may modify risk in BRCA1/2 mutation carriers. Walker LC, et al. Breast Cancer Res Treat, 2008 Nov. PMID 18095154.The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334.Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039.Mutations in NHLRC1 cause progressive myoclonus epilepsy. Chan EM, et al. Nat Genet, 2003 Oct. PMID 12958597.Identification of a novel protein interacting with laforin, the EPM2a progressive myoclonus epilepsy gene product. Ianzano L, et al. Genomics, 2003 Jun. PMID 12782127.
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