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Mutational screening of the RB1 gene in Indian patients with retinoblastoma reveals eight novel and several recurrent mutations.

Human mutation - 1 Oct 2003

Kiran Velamakanni Saroj, Kannabiran Chitra, Chakravarthi Kalyana, Vemuganti Geeta K, Honavar Santosh G

Abstract excerpt

Retinoblastoma is the most common primary intraocular malignancy in children, caused by inactivation of the RB1 gene on chromosome 13. We carried out a mutational screen of the exons and promoter of the RB1 gene in Indian patients with retinoblastoma in order to determine the range of mutations giving rise to disease. Forty-seven patients were screened for mutations in all exons and promoter of the RB1 gene by...

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Identifiers

PMID: 12955724
DOI: 10.1002/humu.9181

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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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