טוען...
Analysis of FOXG1 Is Highly Recommended in Male and Female Patients with Rett Syndrome
We screened a cohort of 5 male and 20 female patients with a Rett spectrum disorder for mutations in the coding region of FOXG1, previously shown to cause the congenital variant of Rett syndrome. Two de novo mutations were identified. The first was a novel missense mutation, p.Ala193Thr (c.577G>A...
שמור ב:
| Main Authors: | , , , , , |
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| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
S. Karger AG
2011
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3214958/ https://ncbi.nlm.nih.gov/pubmed/22190898 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000330755 |
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