Double mutation (A171T and D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening the the United States. Mutations in brief no. 128. Online.
K. J. Norrgard*, R. J. Pomponio, K. L. Swango, J. Hymes, T. Reynolds, G. A. Buck, B. Wolf
*Corresponding author for this work
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