Novel mutations causing biotinidase deficiency in individuals identified by the newborn screening program in Minas Gerais, Brazil-Reference-Cited by-同舟云学术

Novel mutations causing biotinidase deficiency in individuals identified by the newborn screening program in Minas Gerais, Brazil

Author:

Carvalho Nara O.¹^ORCID,Castillo Dora M.¹,Januário José N.¹²,Starling Ana L. P.¹³,Arantes Rodrigo R.¹⁴,Norton Rocksane C.¹³,Viana Marcos B.¹³^ORCID

Affiliation:

1. Nupad – Center for Newborn Screening and Genetic DiagnosticsUFMG – Federal University of Minas Gerais Belo Horizonte Brazil

2. Department of MedicineFederal University of Minas Gerais Belo Horizonte Brazil

3. Department of PediatricsFederal University of Minas Gerais Belo Horizonte Brazil

4. University HospitalFederal University of Minas Gerais Belo Horizonte Brazil

Funder

Center for Newborn Screening and Genetic Diagnostics (Nupad/UFMG), Brazil

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq), Brazil

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

Reference19 articles.

4. Human serum biotinidase. cDNA cloning, sequence, and characterization;Cole H.;The Journal of Biological Chemistry,1994

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