Two Novel BTD Mutations Causing Profound Biotinidase Deficiency in a Chinese Patient
January 2021
in “
Molecular genetics & genomic medicine
”
New to Biotin? There is a guide in the encyclopedia. Read the guide → Studysummary In this study, novel mutations in the BTD gene were identified in a patient with profound biotinidase deficiency, highlighting the importance of biotinidase activity measurement and mutation analysis for early diagnosis.
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