Localization of human UBE3A isoform 3 is highly sensitive to amino acid substitutions at p.Met21 position.
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| Title: | Localization of human UBE3A isoform 3 is highly sensitive to amino acid substitutions at p.Met21 position. |
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| Authors: | van Esbroeck ACM; Department of Clinical Genetics, Erasmus MC, Rotterdam, Dr. Molewaterplein 40, 3015GD Rotterdam, The Netherlands.; Erasmus MC Expertise Center for Neurodevelopmental Disorders (ENCORE), Dr. Molewaterplein 40, 3015GD Rotterdam, The Netherlands., Verhagen RFM; Department of Clinical Genetics, Erasmus MC, Rotterdam, Dr. Molewaterplein 40, 3015GD Rotterdam, The Netherlands.; Erasmus MC Expertise Center for Neurodevelopmental Disorders (ENCORE), Dr. Molewaterplein 40, 3015GD Rotterdam, The Netherlands., Biagioni M; IRCCS Humanitas Research Hospital, Via Manzoni 56, Rozzano, Milan 20089, Italy., Fossati M; IRCCS Humanitas Research Hospital, Via Manzoni 56, Rozzano, Milan 20089, Italy.; CNR Institute of Neuroscience, section of Milan, Via Manzoni 56, Rozzano 20089 Milan, Italy., Distel B; Department of Clinical Genetics, Erasmus MC, Rotterdam, Dr. Molewaterplein 40, 3015GD Rotterdam, The Netherlands.; Erasmus MC Expertise Center for Neurodevelopmental Disorders (ENCORE), Dr. Molewaterplein 40, 3015GD Rotterdam, The Netherlands., Elgersma Y; Department of Clinical Genetics, Erasmus MC, Rotterdam, Dr. Molewaterplein 40, 3015GD Rotterdam, The Netherlands.; Erasmus MC Expertise Center for Neurodevelopmental Disorders (ENCORE), Dr. Molewaterplein 40, 3015GD Rotterdam, The Netherlands. |
| Source: | Human molecular genetics [Hum Mol Genet] 2025 Jun 04; Vol. 34 (12), pp. 1009-1016. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1460-2083 |
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| DOI: | 10.1093/hmg/ddaf044 |
