First microdeletion involving only the biotinidase gene that can cause biotinidase deficiency: A lesson for clinical practice
Recommended Citation
Wolf B. First microdeletion involving only the biotinidase gene that can cause biotinidase deficiency: A lesson for clinical practice. Mol Genet Metab Rep. 2016;6:74-76.
Document Type
Article
Publication Date
3-1-2016
Publication Title
Mol Genet Metab Rep
Abstract
We report the first microdeletion (26 kb) of the biotinidase gene (BTD) that involves three of the four exons of the gene. This deletion further exemplifies the importance of performing microarray analysis or other methodologies for a deletion of the BTD gene when the enzymatic activity indicates lower activity than can be attributed to the mutations identified by DNA sequencing.
PubMed ID
27014582
Volume
6
First Page
74
Last Page
76
COinS
