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Mutational screening of inverted formin 2 in adult-onset focal segmental glomerulosclerosis or minimal change patients from the Czech Republic

BACKGROUND: Mutations in INF2 are frequently responsible for focal segmental glomerulosclerosis (FSGS), which is a common cause of end stage renal disease (ESRD); additionally, they are also connected with Charcot-Marie-Tooth neuropathy. INF2 encodes for inverted formin 2. This protein participates...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:BMC Med Genet
Prif Awduron: Safarikova, Marketa, Stekrova, Jitka, Honsova, Eva, Horinova, Vera, Tesar, Vladimir, Reiterova, Jana
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BioMed Central 2018
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6102913/
https://ncbi.nlm.nih.gov/pubmed/30126379
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0667-9
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