Article ID Journal Published Year Pages File Type
2578396 Revista del Laboratorio Clínico 2011 5 Pages PDF
Abstract
Characterization of the GNPTAB molecular defects in a new case of MLII and the identification of two novel nonsense mutations facilitated the prenatal diagnosis of this disease in the patient's family.
Related Topics
Life Sciences Biochemistry, Genetics and Molecular Biology Clinical Biochemistry
Authors
, ,