Genetic analysis of hypophosphatemic rickets in Malaysian patients through whole exome sequencing

Hypophosphatemic rickets (HR) is a rare subtype of rickets due to genetic defects in phosphate regulators. Low level of phosphate in the blood is due to low reabsorption and high excretion of phosphate by the kidneys. HR often manifests in childhood with skeletal deformities of rickets including bow...

書誌詳細
第一著者:	Nahid, Tavana
フォーマット:	学位論文
言語:	英語
出版事項:	2021
主題:	Rickets, Hypophosphatemic Genetics
オンライン･アクセス:	http://psasir.upm.edu.my/id/eprint/97711/1/FPSK%202021%205%20IR.pdf

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