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Identification of a limb enhancer that is removed by pathogenic deletions downstream of the SHOX gene
Haploinsufficiency of the human SHOX gene causes Léri-Weill dyschondrosteosis (LWD), characterized by shortening of the middle segments of the limbs and Madelung deformity of the wrist. As many as 35% of LWD cases are caused by deletions of non-coding sequences downstream of SHOX that presumably rem...
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| Publicado no: | Sci Rep |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group UK
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6155277/ https://ncbi.nlm.nih.gov/pubmed/30250174 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-32565-1 |
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