Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus
| العنوان: | Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus |
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| المؤلفون: | Perez-Nanclares G, Romanelli V, Mayo S, Garin I, Zazo C, Fernandez-Rebollo E, MARTINEZ, F., Lapunzina P, de Nanclares GP, Spanish PHP Group |
| المصدر: | JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe instname |
| بيانات النشر: | ENDOCRINE SOC, 2012. |
| سنة النشر: | 2012 |
| الوصف: | Genomic imprinting is the modification of the genome so that genes from only one (rather than two) of the parental alleles are expressed. The mechanism underlying imprinting is epigenetic, occurring via changes in DNA methylation and histone modifications rather than through alterations in the DNA sequence. To date, nine different imprinting disorders have been clinically and genetically identified and a considerable research effort has been focused on determining the cause of the corresponding methylation defects. |
| تدمد: | 0021-972X |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::2ed14cead968de4f896e270463387a34Test https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=1989Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.RECOLECTA.....2ed14cead968de4f896e270463387a34 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 0021972X |
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