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Imprinting in Prader-Willi and Angelman syndromes.
Nicholls RD, Saitoh S, Horsthemke B. Nicholls RD, et al. Trends Genet. 1998 May;14(5):194-200. doi: 10.1016/s0168-9525(98)01432-2. Trends Genet. 1998. PMID: 9613204 Review.
The ancestral gene for transcribed, low-copy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities.
Ji Y, Walkowicz MJ, Buiting K, Johnson DK, Tarvin RE, Rinchik EM, Horsthemke B, Stubbs L, Nicholls RD. Ji Y, et al. Among authors: nicholls rd. Hum Mol Genet. 1999 Mar;8(3):533-42. doi: 10.1093/hmg/8.3.533. Hum Mol Genet. 1999. PMID: 9949213
142 results