caa a22 4500 469044764 CHVBK 20180323132821.0 cr unu---uuuuu 170328e19920701xx s 000 0 eng 10.1007/BF01799617 doi (NATIONALLICENCE)springer-10.1007/BF01799617 Thakker R. Division of Molecular Medicine, MRC Clinical Research Centre, Watford Road, HA1 3UJ, Harrow, Middlesex, UK aut Molecular genetics of mineral metabolic disorders [Elektronische Daten] [R. Thakker] Summary: The recent advances in molecular biology and cytogenetics have made it possible to localize, clone and characterize some of the genetic abnormalities which result in disorders of phosphate and calcium homeostasis. Thus, the genes causing X-linked hypophosphataemic rickets, Lowe syndrome, X-linked recessive hypoparathyroidism, Di George syndrome, multiple endocrine neoplasia type 1, multiple endocrine neoplasia type 2 and vitamin D-dependent rickets type I have been mapped. In addition the genes involved in the pathogenesis of the humoral hypercalcaemia of malignancy, vitamin D-dependent rickets type II, pseudohypoparathyroidism, and some of the autosomal forms of hypoparathyroidism have been cloned and the mutations characterized. The molecular and genetic studies which have mapped and identified these disease genes are described and the implications of these developments in clinical practice and in further elucidation of the mineral metabolic defects are discussed. SSIEM and Kluwer Academic Publishers, 1992 Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/4(1992-07-01), 592-609 0141-8955 15:4<592 1992 15 10545 https://doi.org/10.1007/BF01799617 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF01799617 text/html Onlinezugriff via DOI NATIONALLICENCE 100 1- Thakker R. Division of Molecular Medicine, MRC Clinical Research Centre, Watford Road, HA1 3UJ, Harrow, Middlesex, UK aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/4(1992-07-01), 592-609 0141-8955 15:4<592 1992 15 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer