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Carrier frequency of Spino-muscular atrophy in individuals of a reproductive age group from North India
INTRODUCTION: Spinal muscular atrophy (SMA) is a neuro-muscular disorder caused by biallelic variations in Survival Motor Neuron 1 gene (SMN1) located on chromosome 5q13.2. It is the most common hereditary cause of neonatal death. Ethnicity specific studies are desirable for estimating the prevalenc...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer - Medknow
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10041038/ https://www.ncbi.nlm.nih.gov/pubmed/36994015 http://dx.doi.org/10.4103/jfmpc.jfmpc_869_22 |