Assessment of Spinal Muscular Atrophy Carrier Status by Determining SMN1 Copy Number Using Dried Blood Spots

Spinal muscular atrophy (SMA) is a common neuromuscular disease with autosomal recessive inheritance. The disease gene, SMN1, is homozygously deleted in 95% of SMA patients. Although SMA has been an incurable disease, treatment in infancy with newly developed drugs has dramatically improved the dise...

Volledige beschrijving

Bewaard in:
Bibliografische gegevens
Gepubliceerd in:Int J Neonatal Screen
Hoofdauteurs: Wijaya, Yogik Onky Silvana, Purevsuren, Jamiyan, Harahap, Nur Imma Fatimah, Niba, Emma Tabe Eko, Bouike, Yoshihiro, Nurputra, Dian Kesumapramudya, Rochmah, Mawaddah Ar, Thursina, Cempaka, Hapsara, Sunartini, Yamaguchi, Seiji, Nishio, Hisahide, Shinohara, Masakazu
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: MDPI 2020
Onderwerpen:
Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7423012/
https://ncbi.nlm.nih.gov/pubmed/33073034
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijns6020043
Tags: Voeg label toe
Geen labels, Wees de eerste die dit record labelt!

Gelijkaardige items