![](/img/cover-not-exists.png)
Arg538 to Cys mutation in a CpG dinucleotide of the human biotinidase gene is the second most common cause of profound biotinidase deficiency in symptomatic children
Robert J. Pomponio, Karen J. Norrgard, Jeanne Hymes, Thomas R. Reynolds, Gregory A. Buck, Regula Baumgartner, Terttu Suormala, B. WolfVolume:
99
Language:
english
Pages:
7
DOI:
10.1007/s004390050397
Date:
March, 1997
File:
PDF, 192 KB
english, 1997