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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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Biomed Rep
Prif Awduron: Finsterer, Josef, Zarrouk-Mahjoub, Sinda
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: D.A. Spandidos 2018
Pynciau:
Mynediad Ar-lein: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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