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Expanding the Allelic spectrum in ATP1A3-related disorders with 3 novel mutations and clinic features
OBJECTIVES: To describe the complex phenotype of ATP1A3 and second to report new mutation of ATP1A3. METHODS: This is a retrospective chart review of 7 patients who was diagnosed with ATP1A3 mutation based on whole exome sequencing (WES) result and the following information were collected; age, age...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Riyadh : Armed Forces Hospital
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10519661/ https://www.ncbi.nlm.nih.gov/pubmed/37482377 http://dx.doi.org/10.17712/nsj.2023.3.20220131 |