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Detección mediante multiplex ligation-dependent probe amplification de un caso de atrofia muscular espinal tipo i identificada en paciente de tres meses y extensa detección de portadores sanos en la familia
Multiplez 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
A. Zúñigaa,
Corresponding author
azuniga@hospital-ribera.com

Autor para correspondencia.
, I. Pitarchb, M. Ortiza, Y. Belloa
a Servicio de Genética y Biología Molecular, Hospital Universitario de la Ribera, Alzira, Valencia, España
b Servicio de Pediatría, Hospital Universitario de la Ribera, Alzira, Valencia, España
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ISSN: 16954033
Original language: Spanish
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Idiomas
Anales de Pediatría (English Edition)