المؤلفون: Luis Pablo Gravina, Eduardo F. Tizzano, Angélica Moresco, Laura Alias, Hilda Verónica Aráoz, Julieta Mozzoni, Sara Bernal, Soledad Monges, Lilien Chertkoff, Sofía Medrano

المصدر: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
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مصطلحات موضوعية: 0301 basic medicine, Male, Survival motor neuron 2 gene (SMN2), Gene Dosage, Small EDRK-rich factor 1A (SERF1A), SMN1, 030105 genetics & heredity, Spinal Muscular Atrophies of Childhood, Bioinformatics, Cohort Studies, 0302 clinical medicine, Genotype, Age of Onset, Child, Genetics, Neuronal apoptosis inhibitory protein gene (NAIP), General Medicine, SMA, Neuronal Apoptosis-Inhibitory Protein, Survival of Motor Neuron 2 Protein, Medicina Básica, Phenotype, Child, Preschool, Disease Progression, Female, CIENCIAS MÉDICAS Y DE LA SALUD, Adolescent, Inmunología, Argentina, Locus (genetics), Nerve Tissue Proteins, Biology, 03 medical and health sciences, Young Adult, medicine, Humans, Multiplex ligation-dependent probe amplification, Retrospective Studies, Small EDRK-rich factor 1A (SERFIA), Spinal muscular atrophy, Multiplex Ligation-dependent Probe Amplification (MLPA), medicine.disease, Spinal muscular atrophy (SMA), Survival of Motor Neuron 1 Protein, Pediatrics, Perinatology and Child Health, Neurology (clinical), NAIP, Survival motor neuron 1 gene (SMN1), Age of onset, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7f27fed49bb248106285762f771b299
https://pubmed.ncbi.nlm.nih.gov/27510309

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