Article

Carrier frequency of SMA by quantitative analysis of the SMN1 deletion in the Northern- Cyprus population

2022-12-16

Abstract excerpt

SMA is a rare autosomal recessive neuromuscular, where one out of each 10,000 live births can be affected by this syndrome. The atrophy is caused by the gradual loss of alpha motor neurons, within the ventral spinal cord or motor nuclei within the lower brainstem. In this study, we aimed to evaluate the carrier frequency of SMN1 gene mutation causing SMA in Turkish Cypriot population. This is the first study to ev...

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Literature Corpus work: ac42e164-2579-5199-9a68-89a72e7f1778
DOI: 10.21203/rs.3.rs-2363560/v1

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