A missense mutation in the FALDH gene identified in Sj�gren-Larsson syndrome patients originating from the northern part of Sweden
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s004390050490.pdf
Cited by 36 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. A Neurodegenerative Phenotype Associated With Sjögren-Larsson Syndrome;Journal of Child Neurology;2021-07-28
2. Comprehensive in silico screening and molecular dynamics studies of missense mutations in Sjogren-Larsson syndrome associated with the ALDH3A2 gene;Advances in Protein Chemistry and Structural Biology;2020
3. Phenotypic and mutational spectrum of thirty-five patients with Sjögren–Larsson syndrome: identification of eleven novel ALDH3A2 mutations and founder effects;Journal of Human Genetics;2019-07-05
4. Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force;Movement Disorders;2016-04
5. Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes;Journal of Child Neurology;2012-10-03
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