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SMN1 c.5C>G (p.Ala2Gly) missense variant, a challenging molecular SMA diagnosis associated with mild disease, preserves SMN nuclear gems in patient-specific fibroblasts.

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Title: SMN1 c.5C>G (p.Ala2Gly) missense variant, a challenging molecular SMA diagnosis associated with mild disease, preserves SMN nuclear gems in patient-specific fibroblasts.
Authors: Cook SL; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States., Stout C; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States., Kirkeby L; Center for Regenerative Medicine, Mayo Clinic, Rochester, MN, United States., Vidal-Folch N; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States., Oglesbee D; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States., Hasadsri L; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States., Selcen D; Department of Neurology, Mayo Clinic, Rochester, MN, United States., Milone M; Department of Neurology, Mayo Clinic, Rochester, MN, United States., Anderson D; Department of Neurology, Mayo Clinic Health System, La Crosse, WI, United States., Staff NP; Department of Neurology, Mayo Clinic, Rochester, MN, United States.
Source: Frontiers in genetics [Front Genet] 2024 Jul 30; Vol. 15, pp. 1406819. Date of Electronic Publication: 2024 Jul 30 (Print Publication: 2024).
Publication Type: Journal Article
Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1664-8021
DOI:10.3389/fgene.2024.1406819