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Pseudohypoparathyroidism. New insights into an old disease.
Bastepe M, Jüppner H. Bastepe M, et al. Among authors: juppner h. Endocrinol Metab Clin North Am. 2000 Sep;29(3):569-89. doi: 10.1016/s0889-8529(05)70151-1. Endocrinol Metab Clin North Am. 2000. PMID: 11033761 Review.
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.
Bastepe M, Pincus JE, Sugimoto T, Tojo K, Kanatani M, Azuma Y, Kruse K, Rosenbloom AL, Koshiyama H, Jüppner H. Bastepe M, et al. Among authors: juppner h. Hum Mol Genet. 2001 Jun 1;10(12):1231-41. doi: 10.1093/hmg/10.12.1231. Hum Mol Genet. 2001. PMID: 11406605
342 results