Article

Population WGS-based Spinal Muscular Atrophy Carrier Screening in a cohort of 1076 healthy Polish individuals

2022-09-16

Abstract excerpt

<title>Abstract</title> <p>Spinal Muscular Atrophy is a severe neuromuscular disorder with an autosomal recessive inheritance pattern. The disease-causing gene is <italic>SMN1 </italic>and its paralogue, <italic>SMN2</italic>, is a disease course modifier. Both genes <italic>SMN1</italic> and <italic>SMN2</italic> show over 99.9% sequence identity and a high rate of crossing over in the genomic region. Due to thi...

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Literature Corpus work: 455f0b8f-bc38-5272-aa16-ba5f30370c42
DOI: 10.21203/rs.3.rs-1992721/v1

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