Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism.
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| Title: | Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism. |
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| Authors: | Michaud V; Rare Diseases Genetics and Metabolism, INSERM U1211, SBM Department, University of Bordeaux, Bordeaux, France.; Department of Medical Genetics, University Hospital of Bordeaux, Bordeaux, France., Sequeira A; Rare Diseases Genetics and Metabolism, INSERM U1211, SBM Department, University of Bordeaux, Bordeaux, France., Mercier E; Rare Diseases Genetics and Metabolism, INSERM U1211, SBM Department, University of Bordeaux, Bordeaux, France., Lasseaux E; Department of Medical Genetics, University Hospital of Bordeaux, Bordeaux, France., Plaisant C; Department of Medical Genetics, University Hospital of Bordeaux, Bordeaux, France., Hadj-Rabia S; Department of Dermatology, Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC), INSERM U1163, University of Paris, Imagine Institute, AP-HP5, Necker-Enfants Malades Hospital, Paris, France., Whalen S; Clinical Genetics, Centre de Référence Maladies Rares Anomalies du développement et syndromes malformatifs, APHP, Sorbonne University, Hospital Armand Trousseau, Paris, France., Bonneau D; Department of Genetics, University Hospital Angers, Angers, France., Dieux-Coeslier A; Clinical Genetics Department, Reference Center for Developmental Anomalies, CHU Lille, Lille, France., Morice-Picard F; Pediatric Dermatology Unit, National Center for Rare Skin Disorders, University Hospital of Bordeaux, Bordeaux, France., Coursimault J; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, CHU Rouen, Inserm U1245, Rouen, France., Arveiler B; Rare Diseases Genetics and Metabolism, INSERM U1211, SBM Department, University of Bordeaux, Bordeaux, France.; Department of Medical Genetics, University Hospital of Bordeaux, Bordeaux, France., Javerzat S; Rare Diseases Genetics and Metabolism, INSERM U1211, SBM Department, University of Bordeaux, Bordeaux, France. |
| Source: | Pigment cell & melanoma research [Pigment Cell Melanoma Res] 2024 Sep; Vol. 37 (5), pp. 534-545. Date of Electronic Publication: 2023 Aug 31. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Blackwell Munksgaard Country of Publication: England NLM ID: 101318927 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1755-148X (Electronic) Linking ISSN: 17551471 NLM ISO Abbreviation: Pigment Cell Melanoma Res Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1755-148X |
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| DOI: | 10.1111/pcmr.13123 |
