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Autor:
Kundul, Ferdi
Publikováno v:
Médecine humaine et pathologie. 2020
Spinal muscular atrophy (SMA) is a genetic neuromuscular disease of varying severity, resulting from homozygous inactivation of the SMN1 gene. The detection of heterozygotes is based on the determination of the copy number of the SMN1 gene by quantit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2592::3c1e422a8db3ac894b99659d424c5bca
https://dumas.ccsd.cnrs.fr/dumas-02949211/document
https://dumas.ccsd.cnrs.fr/dumas-02949211/document
