In Gene Regulatory Sequences and Human Disease, the Editor will introduce thedifferent technological advances that led to this breakthrough. In addition, several examples will be provided of nucleotide variants in noncoding sequences that have been shown to be associated with various human diseases. INDICE: Gene regulatory elements.- The Hemoglobin regulatory regions.- Regulatory polymorphisms and osteoporosis.- Gene regulation in Van Buchem disease.- Cis-regulatory enhancer mutations are a cause of human limb malformations.-Regulatory mutations leading to cleft lip and palate.- Cis-regulatory disruption at the SOX9 locus as a cause of Pierre Robin Sequence.- Regulatory mutations in human hereditary deafness.- The contributions of RET non-coding variation to Hirschprung disease.- Cis-regulatory variation and cancer.- Cohesin and human diseases.- Epigenetics and human disease.- Index.
- ISBN: 978-1-4614-1682-1
- Editorial: Springer
- Encuadernacion: Cartoné
- Fecha Publicación: 28/06/2012
- Nº Volúmenes: 1
- Idioma: Inglés