Phenotypic effects of null and haploinsufficiency of acid-labile subunit in a family with two novel IGFALS gene mutations

Horacio M. Domené, Paula A. Scaglia, Aida Lteif, Farid H. Mahmud, Salman Kirmani, Jan Frystyk, Patricia Bedecarrás, Mariana Gutiérrez, Héctor G. Jasper

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Biochemistry, Genetics and Molecular Biology