{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T00:57:17Z","timestamp":1698195437565},"reference-count":67,"publisher":"Wiley","issue":"S1","license":[{"start":{"date-parts":[[1989,3,1]],"date-time":"1989-03-01T00:00:00Z","timestamp":604713600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1989,3]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Recent advances in the techniques of molecular biology and cytogenetics have enabled the localization of several mutant genes which result in disorders of phosphate, calcium, magnesium and water homeostasis. Thus, the genes causing X\u2010linked hypophosphataemic rickets, Lowe's syndrome, Di George syndrome, X\u2010linked recessive hypoparathyroidism, multiple endocrine neoplasia Type I, primary hypomagnesaemia and X\u2010linked nephrogenic diabetes insipidus have been mapped. The molecular and genetic studies which localized these disease genes are described and the implications of this gene mapping in genetic counselling and in further elucidation of the mineral metabolic defects are discussed.<\/jats:p>","DOI":"10.1007\/bf01799298","type":"journal-article","created":{"date-parts":[[2005,6,21]],"date-time":"2005-06-21T17:33:36Z","timestamp":1119375216000},"page":"231-246","source":"Crossref","is-referenced-by-count":6,"title":["Gene mapping of mineral metabolic disorders"],"prefix":"10.1002","volume":"12","author":[{"given":"R. V.","family":"Thakker","sequence":"first","affiliation":[{"name":"Division of Molecular Medicine Clinical Research Centre  Watford Road Harrow Middlesex HA1 3UJ"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K. E.","family":"Davies","sequence":"additional","affiliation":[{"name":"Nuffield Department of Clinical Medicine John Radcliffe Hospital  Oxford"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. L. H.","family":"O'Riordan","sequence":"additional","affiliation":[{"name":"The Middlesex Hospital  London W1 UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1989,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1968.02100010147003"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-198603000-00001"},{"key":"e_1_2_1_4_1","first-page":"529","article-title":"Rickets resistant to vitamin D therapy","volume":"54","author":"Albright F.","year":"1937","journal-title":"Am. J. Dis. Child."},{"key":"e_1_2_1_5_1","first-page":"314","article-title":"Construction of a genetic linkage map in man using restriction fragment length polymorphisms","volume":"32","author":"Botstein D.","year":"1980","journal-title":"Am. J. Hum. Genet."},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198605153142004"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1984.tb00780.x"},{"key":"e_1_2_1_8_1","first-page":"594","article-title":"Comparative maps of human and mouse X\u2010chromosomes","volume":"40","author":"Buckle V. J.","year":"1985","journal-title":"Cytogenet. Cell Genet."},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(64)90085-3"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1159\/000132131"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198605083141901"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1941.tb16377.x"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/11.8.2303"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.22.4.243"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1159\/000132481"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00278938"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.73.12.4667"},{"key":"e_1_2_1_18_1","first-page":"A119","article-title":"Molecular mapping in Di George syndrome","volume":"41","author":"Fibison W. J.","year":"1987","journal-title":"Am. J. Hum. Genet."},{"key":"e_1_2_1_19_1","unstructured":"Gardner R. J. M.andBrown N.Lowe's syndrome: Identification of carrier by lens examination.J. Med. Genet.."},{"key":"e_1_2_1_20_1","first-page":"221","article-title":"A new familial disorder characterised by hypokalaemia and hypomagnesemia","volume":"79","author":"Gitelman H. J.","year":"1966","journal-title":"Trans. Assoc. Am. Physicians"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.175.4025.997"},{"key":"e_1_2_1_22_1","first-page":"311","article-title":"Familial hypophosphataemia with vitamin D resistant rickets. II. Three additional kindreds of the sex\u2010linked dominant type with a genetic analysis for four such families","volume":"11","author":"Graham J. B.","year":"1959","journal-title":"Am. J. Hum. Genet"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320230311"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/330754a0"},{"issue":"3","key":"e_1_2_1_25_1","first-page":"569","article-title":"Ocular manifestations in patients and female relatives of families with the oculocerebrorenal syndrome of Lowe","volume":"11","author":"Johnston S. S.","year":"1976","journal-title":"Birth Defects: Orig. Art. Ser."},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320290138"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(82)80116-9"},{"key":"e_1_2_1_28_1","first-page":"640","article-title":"Tight linkage between nephrogenic diabetes insipidus and DXS52","volume":"46","author":"Knoers N.","year":"1987","journal-title":"Cytogenet. Cell Genet."},{"key":"e_1_2_1_29_1","first-page":"113","article-title":"Heredity and cancer in man","volume":"9","author":"Knudson A. G.","year":"1973","journal-title":"Progr. Med. Genet."},{"key":"e_1_2_1_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(85)92790-4"},{"key":"e_1_2_1_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(87)90504-6"},{"key":"e_1_2_1_32_1","doi-asserted-by":"publisher","DOI":"10.1038\/309170a0"},{"key":"e_1_2_1_33_1","doi-asserted-by":"publisher","DOI":"10.1038\/332085a0"},{"key":"e_1_2_1_34_1","first-page":"164","article-title":"Organic\u2010aciduria, decreased renal ammonia production, hydrophthalmos and mental retardation","volume":"83","author":"Lowe C. U.","year":"1952","journal-title":"Am. J. Dis. Child."},{"key":"e_1_2_1_35_1","first-page":"243","article-title":"Mechanisms and evolutionary origins of variable X chromosome activity in mammals","volume":"1987","author":"Lyon M. F.","year":"1974","journal-title":"Proc. R. Soc. Lond."},{"key":"e_1_2_1_36_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.83.13.4899"},{"key":"e_1_2_1_37_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00401243"},{"key":"e_1_2_1_38_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00496992"},{"key":"e_1_2_1_39_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198208123070707"},{"key":"e_1_2_1_40_1","doi-asserted-by":"publisher","DOI":"10.1038\/328524a0"},{"key":"e_1_2_1_41_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(01)87712-6"},{"key":"e_1_2_1_42_1","volume-title":"Mendelian Inheritance in Man","author":"McKusick V. A.","year":"1988"},{"key":"e_1_2_1_43_1","first-page":"101","article-title":"Hypocalcemie magnesodependante par trouble specifique de l'absorption du magnesium, associee a une anomalie chromosomique","volume":"19","author":"Meyer M.","year":"1978","journal-title":"Rev. Fr. Endocr. Clin."},{"key":"e_1_2_1_44_1","first-page":"277","article-title":"Sequential tests for the detection of linkage","volume":"7","author":"Morton N. E.","year":"1955","journal-title":"Am. J. Hum. Genet."},{"key":"e_1_2_1_45_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01574261"},{"key":"e_1_2_1_46_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-642-88178-7"},{"key":"e_1_2_1_47_1","first-page":"588","article-title":"Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies","volume":"26","author":"Ott J.","year":"1974","journal-title":"Am. J. Hum. Genet."},{"key":"e_1_2_1_48_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1971.tb06634.x"},{"key":"e_1_2_1_49_1","first-page":"323","article-title":"True idiopathic hypoparathryoidism as a sex\u2010linked recessive trait","volume":"12","author":"Peden V. H.","year":"1960","journal-title":"Am. J. Hum. Genet."},{"key":"e_1_2_1_50_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01800857"},{"key":"e_1_2_1_51_1","first-page":"217","article-title":"Transmissione autosomica dominante dell'ipoparatiroidismo idiopatico familiare","volume":"10","author":"Proto G.","year":"1985","journal-title":"Estrat. Minerva Endocriniol."},{"key":"e_1_2_1_52_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00401242"},{"key":"e_1_2_1_53_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(84)80355-8"},{"key":"e_1_2_1_54_1","first-page":"944","article-title":"The William Allan Memorial Award Address: Reverse genetics and beyond","volume":"36","author":"Ruddle F. H.","year":"1984","journal-title":"Am. J. Hum. Genet."},{"key":"e_1_2_1_55_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291404"},{"key":"e_1_2_1_56_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.23.3.217"},{"key":"e_1_2_1_57_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI112795"},{"key":"e_1_2_1_58_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1969.tb04743.x"},{"key":"e_1_2_1_59_1","doi-asserted-by":"publisher","DOI":"10.1038\/ki.1978.115"},{"key":"e_1_2_1_60_1","first-page":"27","article-title":"Localisation of the hypophosphataemic rickets gene","volume":"5","author":"Thakker R. V.","year":"1988","journal-title":"Bone"},{"key":"e_1_2_1_61_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0950-351X(88)80012-0"},{"key":"e_1_2_1_62_1","first-page":"1071","article-title":"Localisation of the gene causing X\u2010linked hypophosphataemic rickets","volume":"61","author":"Thakker R. V.","year":"1986","journal-title":"Q. J. Med."},{"key":"e_1_2_1_63_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.24.12.756"},{"key":"e_1_2_1_64_1","first-page":"S","article-title":"Localisation of the gene causing X\u2010linked hypoparathyroidism to the long arm of the X\u2010chromosome (Xq26\u2013Xq27)","volume":"3","author":"Thakker R. V.","year":"1988","journal-title":"J. Bone Min. Res."},{"key":"e_1_2_1_65_1","doi-asserted-by":"publisher","DOI":"10.1038\/313101a0"},{"key":"e_1_2_1_66_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(81)80272-7"},{"key":"e_1_2_1_67_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(86)80741-7"},{"key":"e_1_2_1_68_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-195805000-00001"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF01799298","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF01799298","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,16]],"date-time":"2023-09-16T18:51:16Z","timestamp":1694890276000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/BF01799298"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1989,3]]},"references-count":67,"journal-issue":{"issue":"S1","published-print":{"date-parts":[[1989,3]]}},"alternative-id":["10.1007\/BF01799298"],"URL":"https:\/\/doi.org\/10.1007\/bf01799298","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1989,3]]}}}