Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyroidism - Cinque, Luigia; Sparaneo, Angelo; Penta, Laura; Mencarelli, Amedea; Rogaia, Daniela; Esposito, Susanna; Fabrizio, Federico Pio; Baorda, Filomena; Verrotti, Alberto; Falorni, Alberto; Stangoni, Gabriela; Hendy, Geoffrey N; et al. (The journal of clinical endocrinology and metabolism, 2017)
Keywords: Adolescent; Adult; Calcium signalling; Calcium-sensing receptors; Child, Preschool; Deoxyribonucleic acid; DNA; DNA Mutational Analysis; Family; Female; Genes; Genes, Dominant; Genetic counseling; Genetic screening; Genomic analysis; Glial cells; Guanine; Guanine nucleotide-binding protein; HEK293 Cells; Hereditary diseases; Humans; Hydrophobicity; Hypocalcemia; Hypoparathyroidism; Hypoparathyroidism - genetics; Infant; Infant, Newborn; Male; Middle Aged; Mutants; Mutation; Parathyroid; Parathyroid hormone; Parathyroid Hormone - genetics; Parathyroid Hormone - metabolism; Pedigree; Phenylbutyric acid; Point mutation; Protein Sorting Signals - genetics; Secretion