Clinical utility gene card for: biotinidase deficiency
Eur J Hum Genet
.
2012 May;20(5).
doi: 10.1038/ejhg.2012.28.
Epub 2012 Feb 29.
Authors
Sébastien Küry
1
,
Vincent Ramaekers
,
Stéphane Bézieau
,
Barry Wolf
Affiliation
1
CHU Nantes, Service de Génétique Médicale, Nantes, France. sebastien.kury@chu-nantes.fr
PMID:
22378278
PMCID:
PMC3330233
DOI:
10.1038/ejhg.2012.28
No abstract available
Publication types
Research Support, Non-U.S. Gov't
MeSH terms
Biotinidase / genetics
Biotinidase Deficiency / diagnosis
Biotinidase Deficiency / genetics*
Genetic Testing / methods
Humans
Substances
Biotinidase