Article
Positional dissociation between the genetic mutation responsible for pseudohypoparathyroidism type Ib and the associated methylation defect at exon A/B: evidence for a long-range regulatory element within the imprinted GNAS1 locus.
Human molecular genetics - 1 Jun 2001
Bastepe M, Pincus J E, Sugimoto T, Tojo K, Kanatani M, Azuma Y, Kruse K, Rosenbloom A L, Koshiyama H, Jüppner H
Abstract excerpt
Pseudohypoparathyroidism type Ib (PHP-Ib) is a paternally imprinted disorder which maps to a region on chromosome 20q13.3 that comprises GNAS1 at its telomeric boundary. Exon A/B of this gene was recently shown to display a loss of methylation in several PHP-Ib patients. In nine unrelated PHP-Ib kindreds, in whom haplotype analysis and mode of inheritance provided no evidence against linkage to this chromosomal...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.