Literature DB >> 459990

Infantile hypercalcemia: a defect in the esterification of 1,25-dihydroxyvitamin D?

Y Weisman, A Harell, S Edelstein.   

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Year:  1979        PMID： 459990     DOI： 10.1016/0306-9877(79)90019-7

Source DB:  PubMed          Journal:  Med Hypotheses        ISSN： 0306-9877            Impact factor:   1.538


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  1 in total

1.  Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia.

Authors:  Andrew Dauber; Thutrang T Nguyen; Etienne Sochett; David E C Cole; Ronald Horst; Steven A Abrams; Thomas O Carpenter; Joel N Hirschhorn
Journal:  J Clin Endocrinol Metab       Date:  2011-11-23       Impact factor: 5.958
  1 in total

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