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Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome
Beckwith-Wiedemann syndrome (BWS) is a model imprinting disorder resulting from mutations or epigenetic events involving imprinted genes at chromosome 11p15.5. Thus, germline mutations in CDKN1C, uniparental disomy (UPD), and loss of imprinting of IGF2 and other imprinted genes have been implicated....
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| Autors principals: | , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BMJ Group
2000
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1734494/ https://ncbi.nlm.nih.gov/pubmed/11106355 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.37.12.921 |
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