GENETICS PREVALANCE OF CYSTINE STONE: A 6 YEAR LONGITUDINAL COMPARISON
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Presenting Author - Joshua Chang, Bachlor's; Co-Author - Jad Badreddine, MD; Co-Author - Euhun Eam, Bachlor's; Co-Author - Katreya Lovrenert, Research Associate; Co-Author - Donald Bodner, MD; Co-Author - Friedhelm Hildebrandt, MD; Co-Author - Fredrick R. Schumacher, PhD, MPH; Co-Author - Chen-Han Wilfred Wu, MD, PhD;
Meta Tag
Biochemical genetics
Databases
Genitourinary malformations
Metabolic Disorder
Polymorphism
Population Genetics
Variant Detection
Co-Author Jad Badreddine, MD
Co-Author Euhun Eam, Bachlor's
Co-Author Katreya Lovrenert, Research Associate
Co-Author Donald Bodner, MD
Co-Author Friedhelm Hildebrandt, MD
Co-Author Fredrick R. Schumacher, PhD, MPH
Co-Author Chen-Han Wilfred Wu, MD, PhD
Presenting Author Joshua Chang, Bachlor's
Keywords
cystine stones
cystinuria
heritable condition
excess excretion
urine
SLC3A1 gene
SLC7A9 gene
genetic prevalence
pathogenic variants
Hardy-Weinberg equilibrium

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