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

Tomar, Swati; Sethi, Raman; Sundar, Gangadhara; Quah, Thuan Chong; Quah, Boon Long; Lai, Poh San

Tomar, Swati; Sethi, Raman; Sundar, Gangadhara; Quah, Thuan Chong; Quah, Boon Long; Lai, Poh San.

Afiliação

Tomar S; Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
Sethi R; Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
Sundar G; Department of Ophthalmology, National University Hospital, Singapore, Singapore.
Quah TC; Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
Quah BL; Singapore National Eye Centre, Singapore, Singapore.
Lai PS; Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.

PLoS One ; 12(6): e0178776, 2017.

Article em En | MEDLINE | ID: mdl-28575107

Assuntos

Aconselhamento Genético; Mutação Puntual; Proteína do Retinoblastoma/genética; Retinoblastoma/genética; Pré-Escolar; Metilação de DNA; Feminino; Humanos; Lactente; Masculino; Linhagem; Retinoblastoma/terapia; Singapura

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Retinoblastoma / Proteína do Retinoblastoma / Mutação Puntual / Aconselhamento Genético Tipo de estudo: Prognostic_studies / Screening_studies Limite: Child, preschool / Female / Humans / Infant / Male País como assunto: Asia Idioma: En Ano de publicação: 2017 Tipo de documento: Article

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