Primary and Secondary Elastin-Binding Protein Defect Leads to Impaired Elastogenesis in Fibroblasts from GM1-Gangliosidosis Patients

Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion

Johan T. den Dunnen, Stylianos E. Antonarakis · Human Mutation · 2000 · 1.8K citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man.

Alessandra d’Azzo, A. T. Hoogeveen, Arnold Reuser et al. · Proceedings of the National Academy of Sciences · 1982 · 365 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +10

The 67-kDa Enzymatically Inactive Alternatively Spliced Variant of β-Galactosidase Is Identical to the Elastin/Laminin-binding Protein

Salvatore Privitera, Catherine A. Prody, John W. Callahan et al. · Journal of Biological Chemistry · 1998 · 179 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +12

Impaired Elastogenesis in Hurler Disease

Aleksander Hinek, Sarah E. Wilson · American Journal Of Pathology · 2000 · 158 citations · Full text

Life Sciences, Cell Biology, Pathobiology +4

Molecular Basis of Elastic Fiber Formation

Matthew J. Rock, Stuart A. Cain, Lyle J. Freeman et al. · Journal of Biological Chemistry · 2004 · 158 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +15