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Repeat expansion and methylation-sensitive triplet-primed polymerase chain reaction for fragile X mental retardation 1 gene screening in institutionalised intellectually disabled individuals
INTRODUCTION: Fragile X syndrome (FXS) is the most prevalent X-linked intellectual disability (ID) and a leading genetic cause of autism, characterised by cognitive and behavioural impairments. The hyperexpansion of a CGG repeat in the fragile X mental retardation 1 (FMR1) gene leads to abnormal hyp...
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| I publikationen: | Singapore Med J |
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| Huvudupphovsmän: | , , , , , , |
| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
Singapore Medical Association
2021
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| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8027144/ https://ncbi.nlm.nih.gov/pubmed/31989181 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.11622/smedj.2020009 |
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