[Prevalence of frequent recessive diseases in the Spanish population through DNA analyses on samples from the neonatal screening].

Ezquieta, Begoña; Ruano, Miguel L F; Dulín, Elena; Arnao, Dolores R; Rodríguez, Amparo

[Prevalence of frequent recessive diseases in the Spanish population through DNA analyses on samples from the neonatal screening]. / Prevalencia de enfermedades recesivas frecuentes en población española mediante análisis de ADN en muestras del cribado neonatal.

Ezquieta, Begoña; Ruano, Miguel L F; Dulín, Elena; Arnao, Dolores R; Rodríguez, Amparo.

Affiliation

Ezquieta B; Servicio de Bioquímica, Hospital General Universitario Gregorio Marañón, Madrid, Spain. bezquieta.hgugm@salud.madrid.org

Med Clin (Barc) ; 125(13): 493-5, 2005 Oct 15.

Article in Es | MEDLINE | ID: mdl-16238926

Subject(s)

Adrenal Hyperplasia, Congenital/genetics; Cystic Fibrosis/genetics; Neonatal Screening; Adrenal Hyperplasia, Congenital/epidemiology; Cystic Fibrosis/epidemiology; DNA Mutational Analysis; Genes, Recessive; Humans; Infant, Newborn; Mutation; Prevalence; Spain/epidemiology

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Collection: 01-internacional Database: MEDLINE Main subject: Neonatal Screening / Adrenal Hyperplasia, Congenital / Cystic Fibrosis Type of study: Diagnostic_studies / Prevalence_studies / Risk_factors_studies / Screening_studies Limits: Humans / Newborn Country/Region as subject: Europa Language: Es Journal: Med Clin (Barc) Year: 2005 Document type: Article Affiliation country: Spain Country of publication: Spain

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