Mutational analysis for biotinidase deficiency of a Greek...

Journal of Human Genetics 2011 / 12 Vol. 56; Iss. 12

Mutational analysis for biotinidase deficiency of a Greek patients’ cohort ascertained through expanded newborn screening

Thodi, Georgia, Molou, Elina, Georgiou, Vassiliki, Loukas, Yannis L, Dotsikas, Yannis, Biti, Sofia, Papadopoulos, Konstantinos, Konstantinou, Dimitris, Antoniadi, Marina, Doulgerakis, Emmanuel
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Volume:
56
Language:
english
Journal:
Journal of Human Genetics
DOI:
10.1038/jhg.2011.119
Date:
December, 2011
File:
PDF, 238 KB
english, 2011
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