Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling

Open Access

Peer-reviewed

Research Article

Swati Tomar,

Affiliation Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore
⨯
Raman Sethi,

Affiliation Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore
⨯
Gangadhara Sundar,

Affiliation Department of Ophthalmology, National University Hospital, Singapore, Singapore
⨯
Thuan Chong Quah,

Affiliation Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore
⨯
Boon Long Quah,

Affiliation Singapore National Eye Centre, Singapore, Singapore
⨯
Poh San Lai

* E-mail: paelaips@nus.edu.sg

Affiliation Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore
⨯

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Point mutation
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Nonsense mutation
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Mutant genotypes
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Mutation detection
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Frameshift mutation
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Mutation databases
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Deletion mutation
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Cancers and neoplasms
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