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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: DUKE-NUS MEDICAL SCHOOL
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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https://scholarbank.nus.edu.sg/handle/10635/161192

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