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Human Molecular Genetics|June 19, 2001
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 locusM Bastepe, J E Pincus, T Sugimoto, et al.Proceedings of the National Academy of Sciences of the United States of America|September 30, 1998
The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3H Jüppner, E Schipani, M Bastepe, et al.Journal of Medical Genetics|October 28, 2009
Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs{alpha} coding mutations and GNAS imprinting defectsB Lecumberri, E Fernández-Rebollo, L Sentchordi, et al.Pageof 2