Clinical and genetic studies in a family with a new splice-site mutation in the choroideremia gene

PURPOSE: To describe the clinical and molecular findings of an Italian family with a new mutation in the choroideremia (CHM) gene. METHODS: We performed a comprehensive ophthalmologic examination, fundus photography, macular optical coherence tomography, perimetry, electroretinography, and fluoresce...

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Hlavní autoři: Contestabile, Maria T., Piane, Maria, Cascone, Nikhil C., Pasquale, Nadia, Ciarnella, Angela, Recupero, Santi M., Chessa, Luciana
Médium: Artigo
Jazyk:Inglês
Vydáno: Molecular Vision 2014
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3962727/
https://ncbi.nlm.nih.gov/pubmed/24672218
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