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Clin Genet ; 42(3): 122-3, 1992 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-1395082

RESUMO

Two hundred and twenty-nine symptomatic patients with retinitis pigmentosa were ascertained in Slovenia between 1986 and 1990. Twenty-three further patients were identified while data from 63 families (82 patients) were being collected. After correction for underascertainment, a prevalence of 1 in 6023 was estimated in the Slovene population (1,999,477 in 1990). The highest prevalence of 1 in 1902 was found in the age group 65 years and older. Of 63 analysed families, 17 (27%) showed autosomal dominant, 13 (21%) autosomal recessive, and one family (1.5%) X-linked inheritance; in 30 families (47.5%) isolated cases were found; and in two families the mode of inheritance was impossible to determine.


Assuntos
Retinose Pigmentar/epidemiologia , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Feminino , Genes Dominantes , Genes Recessivos , Ligação Genética/genética , Humanos , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Prevalência , Retinose Pigmentar/genética , Razão de Masculinidade , Eslovênia/epidemiologia , Cromossomo X
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