- The novel mitochondrial tRNA(Asn) gene mutation m.5709T > C produces ophthalmoparesis and respiratory impairment
[作者:Ronchi, D; Sciacco, M; Bordoni, A; Raimondi, M; Ripolone, M; Fassone, E; Di Fonzo, A; Rizzuti, M; Ciscato, P; Cosi, A; Servida, M; Moggio, M; Corti, S; Bresolin, N; Comi, GP,期刊:European Journal of Human Genetics, 页码:357-360 , 文章类型: Article,,卷期:2012年20-3]
- Although mutations in mitochondrial tRNAs constitute the most common mtDNA defect, the presence of pathological variants in mitochondrial tRNA(Asn) is extremely rare. We were able to identify a novel mtDNA tRNA(Asn) gene...
- Skewed X inactivation and survival: a 13-year follow-up study of elderly twins and singletons
[作者:Mengel-From, J; Thinggaard, M; Christiansen, L; Vaupel, JW; Orstavik, KH; Christensen, K,期刊:European Journal of Human Genetics, 页码:361-364 , 文章类型: Article,,卷期:2012年20-3]
- In mammalian females, one of the two X chromosomes is inactivated in early embryonic life. Females are therefore mosaics for two cell populations, one with the maternal and one with the paternal X as the active X chromos...
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