Functional characterizations of rare UBA1 variants in X-linked Spinal Muscular Atrophy

Chris Balak; Jesse M. Hunter; Mary Ellen Ahearn; David J. Wiley; Gennaro D'Urso; Lisa Baumbach-Reardon

doi:https://doi.org/10.12688/f1000research.11878.1

doi.org/10.12688/f1000research.11878.1

Functional characterizations of rare UBA1 variants in X-linked Spinal Muscular Atrophy

,

,

..., Lisa Baumbach-Reardon

7

F1000Research

Volume: 6, Pages: 1636 - 1636

Published: Sep 4, 2017

Abstract

Background:X-linked spinal muscular atrophy (XL-SMA) results from mutations in the Ubiquitin-Like Modifier Activating Enzyme 1 (UBA1). Previously, four novel closely clustered mutations have been shown to cause this fatal infantile disorder affecting only males. These mutations, three missense and one synonymous, all lie within Exon15 of theUBA1gene, which contains the...

Paper Fields

Paper Details

Title

Functional characterizations of rare UBA1 variants in X-linked Spinal Muscular Atrophy

DOI

doi.org/10.12688/f1000research.11878.1

Published Date

Sep 4, 2017

Journal

F1000Research

Volume

6

Pages

1636 - 1636

Citation AnalysisPro

You’ll need to upgrade your plan to Pro

Looking to understand the true influence of a researcher’s work across journals & affiliations?

Scinapse’s Top 10 Citation Journals & Affiliations graph reveals the quality and authenticity of citations received by a paper.
Discover whether citations have been inflated due to self-citations, or if citations include institutional bias.

Learn more

Notes

History