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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
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
PLoS ONE, ISSN 1932-6203, 07/2015, Volume 10, Issue 7, pp. e0131376 - e0131376
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
Laboratory Investigation, ISSN 0023-6837, 11/2015, Volume 95, Issue 11, pp. 1220 - 1221
Journal Article
Journal of Clinical Research in Pediatric Endocrinology, ISSN 1308-5727, 06/2017, Volume 9, Issue 2, p. 28
Journal Article
Journal of Clinical Research in Pediatric Endocrinology, ISSN 1308-5727, 06/2017, Volume 9, Issue 1, p. 28
While PHEX gene mutation is the most common form of inherited rickets, limited data exist regarding genetic etiology of hypophosphatemic rickets in Turkey. The... 
Mutation
Journal Article
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