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Article

Splicing aberrations caused by constitutional RB1 gene mutations in retinoblastoma.

Journal of biosciences - 1 Jun 2011

Parsam Vidya Latha, Ali Mohammed Javed, Honavar Santosh G, Vemuganti Geeta K, Kannabiran Chitra

Abstract excerpt

Analysis of RB1 mRNA from blood leukocytes of patients with retinoblastoma identified the effects of mutations involving consensus splice site, exonic substitution and whole-exon deletions identified in genomic DNA of these patients. In addition, this study identified mutations in cases in which no mutations were detectable in the genomic DNA. One proband had mutation at the canonical splice site at +5 position...

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Identifiers

PMID: 21654082
DOI: 10.1007/s12038-011-9062-9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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