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Study of the relationship genotype/phenotype in retinoblastoma
Retinoblastoma is the most common intraocular childhood cancer and occurs when both alleles of the RB1 gene are inactivated in the retina. In patients without genetic... -
Ancestral haplotype 8.1 in cystic fibrosis
Cystic fibrosis is an autosomic recessive disease due to mutations in the gene CFTR. There is a great phenotypic variability among patients with identical mutations...
