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Review
. 1989:12 Suppl 1:231-46.
doi: 10.1007/BF01799298.

Gene mapping of mineral metabolic disorders

R V Thakker  1 , K E Davies, J L O'Riordan
Affiliations
Review

Gene mapping of mineral metabolic disorders

R V Thakker et al. J Inherit Metab Dis. 1989.

Erratum in

  • J Inherit Metab Dis 1989;12(3):378

Abstract

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.

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References

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