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Screening of RB1 gene mutations in Chinese patients with retinoblastoma and preliminary exploration of genotype-phenotype correlations.

Authors
  • He, Ming-yan
  • An, Yu
  • Gao, Yi-jin
  • Qian, Xiao-wen
  • Li, Gang
  • Qian, Jiang
Type
Published Article
Journal
Molecular vision
Publication Date
Jan 01, 2014
Volume
20
Pages
545–552
Identifiers
PMID: 24791139
Source
Medline
License
Unknown

Abstract

Our results confirm that the type of mutation is related to age of onset and the laterality, but not staging of the retinoblastoma tumor. MLPA is a reliable method for detecting gross deletion or duplication of the RB1 gene. The combination of sequencing and MLPA improves the clinical diagnosis of RB.

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