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Title
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.
Authors
Bastepe M; Pincus JE; Sugimoto T; Tojo K; Kanatani M; Azuma Y; Kruse K; Rosenbloom AL; Koshiyama H; Jüppner H
Publication
Human molecular genetics, 2001, Vol 10, Issue 12, p1231