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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Vydáno v:Singapore Med J
Hlavní autoři: Sihombing, Nydia Rena Benita, Cai, Shiwei, Wong, Daphne Pei Wen, Guan, Ming, Chong, Samuel Siong-Chuan, Faradz, Sultana Muhammad Hussein, Winarni, Tri Indah
Médium: Artigo
Jazyk:Inglês
Vydáno: Singapore Medical Association 2021
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On-line přístup: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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