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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
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 05/2018, Volume 103, Issue 5, pp. 1889 - 1898
Journal Article
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