Analysis of mutations causing biotinidase deficiencya
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.21303/fullpdf
Reference46 articles.
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2. Profound biotinidase deficiency in a child with predominantly spinal cord disease;Chedrawi;J Child Neurol,2008
3. Human serum biotinidase: cDNA cloning, sequence and characterization;Cole;J Biol Chem,1994
4. Purification of biotinidase from human plasma and its activity on biotinyl peptides;Craft;Biochem,1985
5. Two new mutations in children affected by partial biotinidase deficiency ascertained by newborn screening;Funghini;J Inherit Metab Dis,2002
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