Associated Papers
Localization of human UBE3A isoform 3 is highly sensitive to amino acid substitutions at p.Met21 position.
van Esbroeck ACM et al.
Human Molecular Genetics, 2025
Molecular Evolution, Neurodevelopmental Roles and Clinical Significance of HECT-Type UBE3 E3 Ubiquitin Ligases.
Ambrozkiewicz MC et al.
Cells, 2020
Two Angelman families with unusually advanced neurodevelopment carry a start codon variant in the most highly expressed UBE3A isoform.
Sadhwani A et al.
American Journal of Medical Genetics. Part A, 2018
Evidence for involvement of the vitamin D receptor gene in idiopathic short stature via a genome-wide linkage study and subsequent association studies.
Dempfle A et al.
Human Molecular Genetics, 2006
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