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Phenotypic spectrum of SLC25A4 mutations

There is no comprehensive overview concerning the phenotypic variability in patients carrying SLC25A4 mutations available. Therefore, the aim of the present review was to summarise and discuss recent findings concerning the clinical presentation and phenotypic heterogeneity of SLC25A4 mutations. The...

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Detalles Bibliográficos
Publicado en:Biomed Rep
Autores principales: Finsterer, Josef, Zarrouk-Mahjoub, Sinda
Formato: Artigo
Lenguaje:Inglês
Publicado: D.A. Spandidos 2018
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6036827/
https://ncbi.nlm.nih.gov/pubmed/30013777
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/br.2018.1115
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