Screening of Neonatal UK Dried Blood Spots Using a Duplex SMN1 Screening Assay.
NBS
SMA
SMN1
dried blood spot
newborn screening
spinal muscular atrophy
Journal
International journal of neonatal screening
ISSN: 2409-515X
Titre abrégé: Int J Neonatal Screen
Pays: Switzerland
ID NLM: 101665400
Informations de publication
Date de publication:
26 Oct 2021
26 Oct 2021
Historique:
received:
06
09
2021
revised:
21
10
2021
accepted:
21
10
2021
entrez:
29
11
2021
pubmed:
30
11
2021
medline:
30
11
2021
Statut:
epublish
Résumé
Spinal muscular atrophy (SMA) is an autosomal inherited neuromuscular genetic disease caused, in 95% of cases, by homozygous deletions involving the
Identifiants
pubmed: 34842601
pii: ijns7040069
doi: 10.3390/ijns7040069
pmc: PMC8629004
pii:
doi:
Types de publication
Journal Article
Langues
eng
Références
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pubmed: 28711173
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pubmed: 33072998
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pubmed: 31030938