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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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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spelling	sg-nus-scholar.10635-1611922024-04-24T06:52:20Z Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling Tomar S. Sethi R. Sundar G. Quah T.C. Quah B.L. Lai P.S. PAEDIATRICS DUKE-NUS MEDICAL SCHOOL 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 point mutation preschool child retinoblastoma Child, Preschool DNA Methylation Female Genetic Counseling Humans Infant Male Pedigree Point Mutation Retinoblastoma Retinoblastoma Protein Singapore 10.1371/journal.pone.0178776 PLoS ONE 12 6 e0178776 2019-11-01T07:52:39Z 2019-11-01T07:52:39Z 2017 Article Tomar S., Sethi R., Sundar G., Quah T.C., Quah B.L., Lai P.S. (2017). Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling. PLoS ONE 12 (6) : e0178776. ScholarBank@NUS Repository. https://doi.org/10.1371/journal.pone.0178776 19326203 https://scholarbank.nus.edu.sg/handle/10635/161192 Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/ Unpaywall 20191101
institution	National University of Singapore
building	NUS Library
continent	Asia
country	Singapore Singapore
content_provider	NUS Library
collection	ScholarBank@NUS
topic	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 point mutation preschool child retinoblastoma Child, Preschool DNA Methylation Female Genetic Counseling Humans Infant Male Pedigree Point Mutation Retinoblastoma Retinoblastoma Protein Singapore
spellingShingle	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 point mutation preschool child retinoblastoma Child, Preschool DNA Methylation Female Genetic Counseling Humans Infant Male Pedigree Point Mutation Retinoblastoma Retinoblastoma Protein Singapore Tomar S. Sethi R. Sundar G. Quah T.C. Quah B.L. Lai P.S. Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling
description	10.1371/journal.pone.0178776
author2	PAEDIATRICS
author_facet	PAEDIATRICS Tomar S. Sethi R. Sundar G. Quah T.C. Quah B.L. Lai P.S.
format	Article
author	Tomar S. Sethi R. Sundar G. Quah T.C. Quah B.L. Lai P.S.
author_sort	Tomar S.
title	Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling
title_short	Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling
title_full	Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling
title_fullStr	Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling
title_full_unstemmed	Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling
title_sort	mutation spectrum of rb1 mutations in retinoblastoma cases from singapore with implications for genetic management and counselling
publishDate	2019
url	https://scholarbank.nus.edu.sg/handle/10635/161192
_version_	1800913782432595968

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

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