Gene Regulatory Sequences and Human Disease

Buch | Hardcover

286 Seiten

2012 | 2012
Springer-Verlag New York Inc.
978-1-4614-1682-1 (ISBN)

Artikel merken

In Gene Regulatory Sequences and Human Disease, the Editor will introduce the different 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.

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.

Zusatzinfo	X, 286 p.
Verlagsort	New York, NY
Sprache	englisch
Maße	155 x 235 mm
Themenwelt	Informatik ► Weitere Themen ► Bioinformatik
	Medizin / Pharmazie ► Medizinische Fachgebiete
	Studium ► 2. Studienabschnitt (Klinik) ► Humangenetik
	Naturwissenschaften ► Biologie ► Genetik / Molekularbiologie
Schlagworte	Humangenetik
ISBN-10	1-4614-1682-5 / 1461416825
ISBN-13	978-1-4614-1682-1 / 9781461416821
Zustand	Neuware