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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書目詳細資料
Main Authors:	Tomar S., Sethi R., Sundar G., Quah T.C., Quah B.L., Lai P.S.
其他作者:	DUKE-NUS MEDICAL SCHOOL
格式:	Article
出版:	2019
主題:	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
在線閱讀:	https://scholarbank.nus.edu.sg/handle/10635/161192
標簽:	添加標簽沒有標簽, 成為第一個標記此記錄!

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