ArticleJournal of family medicine and primary care2022
Carrier frequency of Spino-muscular atrophy in individuals of a reproductive age group from North India.
Article in Journal of family medicine and primary care, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed, 1 citations in OpenAlex.
- Spinal muscular atrophy: Molecular mechanism of pathogenesis, diagnosis, therapeutics, and clinical trials in the Indian context.Journal of biosciences · 2024Review
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Introduction: Spinal muscular atrophy (SMA) is a neuro-muscular disorder caused by biallelic variations in Survival Motor Neuron 1 gene Objectives: To estimate the carrier frequency of SMA among individuals of a reproductive age group in a North Indian cohort. Methods: SMA carrier screening was offered to individuals of a reproductive age group (>18 years) visiting a tertiary care center. Multiplex ligation-dependent probe amplification (MLPA) and quantitative real-time polymerase chain reaction (PCR) were the molecular techniques used to detect the carrier status. Results: A total of 198 individuals without a family history of SMA were screened in this study. The carrier frequency of heterozygous deletion of Conclusion: The carrier frequency of SMA is high in our country. The data from the study emphasize the need of a population carrier screening program on SMA in India.
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