Gene mapping of mineral metabolic disorders

Summary 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‐linked hypophosphataemic rickets, Lowe's syndrome, Di...

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Veröffentlicht in:Journal of inherited metabolic disease 1989-03, Vol.12 (1), p.231-246
Hauptverfasser: Thakker, R. V., Davies, K. E., O'Riordan, J. L. H.
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container_title Journal of inherited metabolic disease
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creator Thakker, R. V.
Davies, K. E.
O'Riordan, J. L. H.
description Summary 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‐linked hypophosphataemic rickets, Lowe's syndrome, Di George syndrome, X‐linked recessive hypoparathyroidism, multiple endocrine neoplasia Type I, primary hypomagnesaemia and X‐linked 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.
doi_str_mv 10.1007/BF01799298
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subjects Biological and medical sciences
Chromosome Mapping
Genetic Linkage
Humans
Medical sciences
Metabolic diseases
Metabolism, Inborn Errors - genetics
Metals (hemochromatosis...)
Minerals - metabolism
Other metabolic disorders
X Chromosome - ultrastructure
title Gene mapping of mineral metabolic disorders
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