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

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

10.1371/journal.pone.0178776

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Bibliographic Details
Main Authors:	Tomar S., Sethi R., Sundar G., Quah T.C., Quah B.L., Lai P.S.
Other Authors:	PAEDIATRICS
Format:	Article
Published:	2019
Subjects:	cysteine guanine tyrosine retinoblastoma protein adult allele amino acid substitution Article blood sampling cancer risk controlled study female gene gene deletion gene mutation genetic counseling genetic screening human major clinical study male missense mutation multiplex ligation dependent probe amplification mutation rate mutational analysis patient care phenotype point mutation RB1 gene retinoblastoma Singapore DNA methylation genetics infant pedigree preschool child Child, Preschool DNA Methylation Female Genetic Counseling Humans Infant Male Pedigree Point Mutation Retinoblastoma Retinoblastoma Protein
Online Access:	https://scholarbank.nus.edu.sg/handle/10635/161192
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Institution:	National University of Singapore

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