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...

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Detalles Bibliográficos
Autores principales: Kaur, Anupriya, Kumari, Anu, Kaur, Anit, Sharma, Riya, Srivastava, Priyanka, Suthar, Renu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2022
Materias:
Original Article
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

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