Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency

Robert J. Pomponio, Thomas R. Reynolds, Heath Cole, Gregory A. Buck, Barry Wolf*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

67 Scopus citations

Fingerprint Dive into the research topics of 'Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency'. Together they form a unique fingerprint.

Medicine & Life Sciences