[The relevance of molecular biology studies in the genetic counselling of Argentine retinoblastoma families].

doi:10.4321/s0365-66912009001100004

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Article

[The relevance of molecular biology studies in the genetic counselling of Argentine retinoblastoma families].

Archivos de la Sociedad Espanola de Oftalmologia - 1 Nov 2009

Parma D L, Dalamon V K, Fernández C, Szijan I, Damel A

Abstract excerpt

OBJECTIVE: Evaluate the relevance of RB1 mutations detection in the genetic counselling of Argentine retinoblastoma families. METHODS: We included in this study 34 Argentine families with bilateral and unilateral Retinoblastoma (Rb). 130 DNA samples from leukocytes, tumors and chorionic villus were analyzed by indirect and direct molecular biology assays like Southern blot, segregation of polymorphisms BamHI,...

Topics

Argentina
Child, Preschool
Female
Genetic Counseling
Humans
Infant
Infant, Newborn
Male
Molecular Diagnostic Techniques
Mutation
Pedigree
Retinoblastoma
Retinoblastoma Protein

Source

Open in PubMed

Identifiers

PMID: 19967608
DOI: 10.4321/s0365-66912009001100004

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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