Vitamin D and Diseases of Mineral Homeostasis: A Cyp24a1 R396W Humanized Preclinical Model of Infantile Hypercalcemia Type 1
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DOI: 10.3390/nu14153221
Abstract: Infantile hypercalcemia type 1 (HCINF1), previously known as idiopathic infantile hypercalcemia, is caused by mutations in the 25-hydroxyvitamin D 24-hydroxylase gene, CYP24A1. The R396W loss-of-function mutation in CYP24A1 is the second most frequent mutated allele… read more here.
Keywords: hypercalcemia type; infantile hypercalcemia; cyp24a1 r396w; hypercalcemia ... See more keywords