Iqbal, Furhan

The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC). [electronic resource] - Molecular genetics and metabolism May 2010 - 42-5 p. digital

Publication Type: Journal Article

1096-7206

10.1016/j.ymgme.2009.12.016 doi


Biotinidase--genetics
Child, Preschool
Chromatography, High Pressure Liquid--methods
Humans
Infant
Infant, Newborn
Mutation
Protein Denaturation
Sensitivity and Specificity