Received: April 1, 2009 Accepted: May 13, 2009 Correspondence: Dr. Keisuke Nagasaki, Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medicine and Dental Sciences, 1-757 Asahimachi, Niigata 951-8510, Japan E-mail: [email protected] H62L Mutation of CYP21A2 Identified in the Non-classical Form of 21-Hydroxylase Deficiency

congenital hepatic fibrosis (chf) is a rare disease that affects both the liver and kidneys.  congenital hepatic fibrosis (chf) is an autosomal recessive inherited malformation defined pathologically by a variable degree of periportal fibrosis and irregularly shaped proliferating bile ducts. affected individuals also have impaired renal function, usually caused, in children and teenagers, by an...

— Recently there are so many media contents created and used by variety routes. Therefore, it is essential to make a new platform which is used for distributing media contents include IPTV. With open IPTV service, developing the new platform became even more important. Because open IPTV makes it possible for consumers to choose contents regardless of contents of the providers. The new platform ...

The IL21R gene is comprised of 9 exons (+2 alternative first exons), spanning 48.4kb on chromosome 16p11 (Parrish-Novak, 2000). The human IL21R promoter region, contained within nucleotides -789 to +195 (relative to the start of exon 1a) induces the high levels of transcription in reporter assays (Ueda, 2002). A critical SP1 binding site is contained in the region from -80 to -20 and is essenti...