Genetic and epigenetic states of the GNAS complex in pseudohypoparathyroidism type Ib using methylation-specific multiplex ligation-dependent probe amplification assay - Yuno, Akiko; Usui, Takeshi; Yambe, Yuko; Higashi, Kiichiro; Ugi, Satoshi; Shinoda, Junji; Mashio, Yasuo; Shimatsu, Akira (European journal of endocrinology, 2013)
Keywords: Biological and medical sciences; Chromogranins; Clinical Study; DNA Methylation; Endocrinopathies; Epigenesis, Genetic; Female; Fundamental and applied biological sciences. Psychology; Genomic Imprinting; GTP-Binding Protein alpha Subunits, Gs - genetics; Humans; Male; Medical sciences; Multiplex Polymerase Chain Reaction; Non tumoral diseases. Target tissue resistance. Benign neoplasms; Parathyroids. Parafollicular cells. Cholecalciferol. Phosphocalcic homeostasis (diseases); Pseudohypoparathyroidism - genetics; Retrospective Studies; Sequence Deletion; Vertebrates: endocrinology; Endocrinopathy; Amplification; Assay; Ligature; Pseudohypoparathyroidism; Genetics; Methylation; Probe; Endocrinology; Genetic disease; Complexity