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....

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Engel, J., Smallwood, A., Harper, A., Higgins, M., Oshimura, M., Reik, W., Schofield, P., Maher, E.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BMJ Group 2000
Gaiak:
Original Articles
Sarrera elektronikoa: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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