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

Medicina Clinica

Volumn 125, Issue 13, 2005, Pages 493-495

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

^a HOSPITAL GENERAL UNIVERSITARIO GREGORIO MARAÑÓN   (Spain)

Author keywords

Blood paper DNA; Carrier testing; Congenital adrenal hyperplasia; Cystic fibrosis; DF508 allele frequency; Neonatal screening; Val281Leu allele frequency

Indexed keywords

DNA; TRANSMEMBRANE CONDUCTANCE REGULATOR;

AMINO ACID SUBSTITUTION; ANALYTICAL ERROR; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CONGENITAL ADRENAL HYPERPLASIA; CYSTIC FIBROSIS; DNA DETERMINATION; GENE AMPLIFICATION; GENE FREQUENCY; GENE MUTATION; HUMAN; NEWBORN; NEWBORN SCREENING; POLYMERASE CHAIN REACTION; POPULATION RESEARCH; SPAIN; STANDARD;

EID: 28144442193     PISSN: 00257753     EISSN: None     Source Type: Journal    
DOI: 10.1157/13080213     Document Type: Article

References (10)

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