Combined malonic and methylmalonic aciduria: exome...

Journal of Medical Genetics 2011 / 09 Vol. 48; Iss. 9

Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype

Alfares, A., Nunez, L. D., Al-Thihli, K., Mitchell, J., Melancon, S., Anastasio, N., Ha, K. C. H., Majewski, J., Rosenblatt, D. S., Braverman, N.
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Volume:
48
Language:
english
Journal:
Journal of Medical Genetics
DOI:
10.1136/jmedgenet-2011-100230
Date:
September, 2011
File:
PDF, 344 KB
english, 2011
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