Molecular basis of acid ceramidase deficiency in a neonatal...

Molecular Genetics and Metabolism 2013 / 07 Vol. 109; Iss. 3

Molecular basis of acid ceramidase deficiency in a neonatal form of Farber disease: Identification of the first large deletion in ASAH1 gene

Alves, Mariana Q., Le Trionnaire, Emmanuelle, Ribeiro, Isaura, Carpentier, Stéphane, Harzer, Klaus, Levade, Thierry, Ribeiro, M. Gil
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Volume:
109
Language:
english
Journal:
Molecular Genetics and Metabolism
DOI:
10.1016/j.ymgme.2013.04.019
Date:
July, 2013
File:
PDF, 611 KB
english, 2013
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