Two new mutations and three novel polymorphisms in the RB1 gene in Ecuadorian patients.

doi:10.1007/s10038-003-0092-5

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Article

Two new mutations and three novel polymorphisms in the RB1 gene in Ecuadorian patients.

Journal of human genetics - 1 Jan 2003

Leone Paola E, Vega María Elena, Jervis Paola, Pestaña Angel, Alonso Javier, Paz-Y-Miño César

Abstract excerpt

RB1 is the gene responsible for retinoblastoma, the most common malignant intraocular tumor of infancy and early childhood. There are no reports about this gene in Ecuadorian populations, and only a few studies have been published in Latin America about this subject. There is a spectrum of more than 370 mutations described in the RB1 gene mutation database (http://www.d-lohmann.de/Rb/mutations.html), and...

Topics

Databases as Topic
Ecuador
Exons
Eye Neoplasms
Genetic Predisposition to Disease
Humans
Introns
Mutation
Mutation, Missense
Polymorphism, Genetic
Retinoblastoma
Retinoblastoma Protein
Sequence Analysis, DNA

Source

Open in PubMed

Identifiers

PMID: 14625809
DOI: 10.1007/s10038-003-0092-5

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