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PLoS ONE, 07/2015, Volume 10, Issue 7
The CYP27B1 gene encodes 25-hydroxyvitamin D-1 alpha -hydroxylase. Mutations of this gene cause vitamin D-dependent rickets type 1A (VDDR-IA, OMIM 264700),... 
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 07/2015, Volume 10, Issue 7, pp. e0131376 - e0131376
Journal Article
Journal Article
Bone, ISSN 8756-3282, 08/2019, Volume 125, pp. 186 - 193
X-linked hypophosphatemic rickets (XLH) is caused by inactivating mutations in the gene and is the most common form of hereditary rickets. The splice-site... 
Phenotype-genotype correlation | Splice-site mutation | Hypophosphatemic rickets | PHEX | RNA splicing | DEFECTS | SEQUENCE | ENDOCRINOLOGY & METABOLISM | PEX GENE | Genetic research | Genetic aspects | Rickets | RNA | Analysis | Genes
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 05/2018, Volume 103, Issue 5, pp. 1889 - 1898
Journal Article
Journal Article
Laboratory Investigation, ISSN 0023-6837, 11/2015, Volume 95, Issue 11, pp. 1220 - 1221
Journal Article
Laboratory Investigation, ISSN 0023-6837, 11/2015, Volume 95, Issue 11, pp. 1269 - 1277
  KRASG12D can cause lung cancer rapidly, but is not sufficient to induce thyroid cancer. It is not clear whether long-term serum thyroid stimulating hormone... 
Journal Article