title: [Multiplex ligation-dependent probe amplification detection of spinal muscular atrophy type I in a 3 months' patient and wide detection of healthy carriers in the family].
authors.affiliation: Servicio de Genética y Biología Molecular, Hospital Universitario de la Ribera, Alzira, Valencia, España. Electronic address: azuniga@hospital-ribera.com.
authors.forename: A
authors.initials: A
authors.lastname: Zúñiga
authors.affiliation: Servicio de Pediatría, Hospital Universitario de la Ribera, Alzira, Valencia, España.
authors.forename: I
authors.initials: I
authors.lastname: Pitarch
authors.affiliation: Servicio de Genética y Biología Molecular, Hospital Universitario de la Ribera, Alzira, Valencia, España.
authors.forename: M
authors.initials: M
authors.lastname: Ortiz
authors.affiliation: Servicio de Genética y Biología Molecular, Hospital Universitario de la Ribera, Alzira, Valencia, España.
authors.forename: Y
authors.initials: Y
authors.lastname: Bello
mesh_terms: D005260:Female; D006580:Genetic Carrier Screening; D006579:Heterozygote; D006801:Humans; D007223:Infant; D060885:Multiplex Polymerase Chain Reaction; D010375:Pedigree; D014897:Spinal Muscular Atrophies of Childhood / Q000175:diagnosis* / Q000235:genetics*