Novel mutations cause biotinidase deficiency in Turkish children
- 1 March 2000
- journal article
- clinical trial
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 23 (2) , 120-128
- https://doi.org/10.1023/a:1005609614443
Abstract
Mutation analysis was performed on DNA from 31 Turkish children with profound biotinidase deficiency who were symptomatic or ascertained by newborn screening. The 98G:del7ins3 mutation is common in c...Keywords
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