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Article

Intelligent Ratio: A New Method for Carrier and Newborn Screening in Spinal Muscular Atrophy.

Genetic testing and molecular biomarkers - 1 Sept 2020

Cavdarli Busranur, Ozturk Fatma Nihal, Guntekin Ergun Sezen, Ergun Mehmet Ali, Dogan Ozlem, Percin Emriye Ferda

Abstract excerpt

Aim: Spinal muscular atrophy (SMA) is an inherited, autosomal recessive neuromuscular disease that causes high morbidity and mortality. The prevalence is 1-2/100,000, while the incidence is 1/6000-1/10,000 among live births. Due to the high carrier frequency (1/40-1/60) of SMA-associated alleles, screening can prevent new cases. The aim of the current study was to present the development of a new, quantitative,...

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Identifiers

PMID: 32721240
DOI: 10.1089/gtmb.2020.0085

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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