Case report: genetic analysis of a novel frameshift mutation in FMR1 gene in a Chinese family
Fragile X syndrome (FXS) [OMIM 300624] is a common X-linked inherited syndrome with an incidence only second to that of trisomy 21. More than 95% of fragile X syndrome is caused by reduced or absent fragile X intellectual disability protein 1 (FMRP) synthesis due to dynamic mutation expansion of the...
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| Автори: | , , , , , , , |
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| Формат: | Artigo |
| Мова: | Inglês |
| Опубліковано: |
Frontiers Media S.A.
2023-09-01
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| Серія: | Frontiers in Genetics |
| Предмети: | |
| Онлайн доступ: | https://www.frontiersin.org/articles/10.3389/fgene.2023.1228682/full |
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