An animal model for Pierpont syndrome: a mouse bearing the Tbl1xr1Y446C/Y446C mutation.
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| Title: | An animal model for Pierpont syndrome: a mouse bearing the Tbl1xr1Y446C/Y446C mutation. |
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| Authors: | Hu Y; Endocrine Laboratory, Department of Clinical Chemistry, Amsterdam Gastroenterology, Endocrinology & Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam 1105AZ, The Netherlands., Lauffer P; Department of Pediatric Endocrinology, Emma Children's Hospital, Amsterdam Gastroenterology, Endocrinology & Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam 1105AZ, The Netherlands., Stewart M; The Mary Lyon Centre, MRC Harwell, Harwell Campus, Oxfordshire OX11 0RD, UK., Codner G; The Mary Lyon Centre, MRC Harwell, Harwell Campus, Oxfordshire OX11 0RD, UK., Mayerl S; Department of Endocrinology, Diabetes and Metabolism, University Hospital Essen, University of Duisburg-Essen, Essen 45122, Germany., Heuer H; Department of Endocrinology, Diabetes and Metabolism, University Hospital Essen, University of Duisburg-Essen, Essen 45122, Germany., Ng L; Laboratory of Endocrinology and Receptor Biology, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA., Forrest D; Laboratory of Endocrinology and Receptor Biology, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA., van Trotsenburg P; Department of Pediatric Endocrinology, Emma Children's Hospital, Amsterdam Gastroenterology, Endocrinology & Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam 1105AZ, The Netherlands., Jongejan A; Bioinformatics Laboratory, Department of Epidemiology and Data Science, Amsterdam Public Health, Methodology Amsterdam, Amsterdam UMC, University of Amsterdam, Amsterdam 1105AZ, The Netherlands., Fliers E; Department of Endocrinology, Amsterdam Gastroenterology, Endocrinology & Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam 1105AZ, The Netherlands., Hennekam R; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam 1105AZ, The Netherlands., Boelen A; Endocrine Laboratory, Department of Clinical Chemistry, Amsterdam Gastroenterology, Endocrinology & Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam 1105AZ, The Netherlands. |
| Source: | Human molecular genetics [Hum Mol Genet] 2022 Aug 25; Vol. 31 (17), pp. 2951-2963. |
| Publication Type: | Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| 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/ddac086 |
