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Large inverted repeats within Xp11.2 are present at the breakpoints of isodicentric X chromosomes in Turner syndrome
Turner syndrome (TS) results from whole or partial monosomy X and is mediated by haploinsufficiency of genes that normally escape X-inactivation. Although a 45,X karyotype is observed in half of all TS cases, the most frequent variant TS karyotype includes the isodicentric X chromosome alone [46,X,i...
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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2010
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| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2916707/ https://ncbi.nlm.nih.gov/pubmed/20570968 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddq250 |
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