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...

وصف كامل

التفاصيل البيبلوغرافية
المؤلف الرئيسي:	Nahid, Tavana
التنسيق:	أطروحة
اللغة:	الإنجليزية
منشور في:	2021
الموضوعات:	Rickets, Hypophosphatemic Genetics
الوصول للمادة أونلاين:	http://psasir.upm.edu.my/id/eprint/97711/1/FPSK%202021%205%20IR.pdf

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