Related content

Cloning of the cDNA and gene encoding mouse lysosomal sialidase and correction of sialidase deficiency in human sialidosis and mouse SM/J fibroblasts

By Igdoura S.A.  

Human Molecular Genetics, Vol. 7, Iss. 1, 1998-01 ,pp. : 115-121

Oxford University Press

Access to resources Recommend Favorite

Systemic and neurologic abnormalities distinguish the lysosomal disorders sialidosis and galactosialidosis in mice

By de Geest N.   Bonten E.   Mann L.   de Sousa-Hitzler J.   Hahn C.   d'Azzo A.  

Human Molecular Genetics, Vol. 11, Iss. 12, 2002-06 ,pp. : 1455-1464

Oxford University Press

Access to resources Recommend Favorite

Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis

By Bonten Erik. J.  

Human Molecular Genetics, Vol. 9, Iss. 18, 2000-11 ,pp. : 2715-2725

Oxford University Press

Access to resources Recommend Favorite

Characterization of molecular defects in xeroderma pigmentosum group F in relation to its clinically mild symptoms

By Matsumura Y.  

Human Molecular Genetics, Vol. 7, Iss. 6, 1998-06 ,pp. : 969-974

Oxford University Press

Access to resources Recommend Favorite

Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1

By Ars Elisabet   Serra Eduard   García Judit   Kruyer Helena   Gaona Antonia   Lázaro Conxi   Estivill Xavier  

Human Molecular Genetics, Vol. 9, Iss. 2, 2000-01 ,pp. : 237-247

Oxford University Press

Access to resources Recommend Favorite