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Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy

Leber congenital amaurosis (LCA) is a severe disease that leads to complete blindness in children, typically before the first year of life. Due to the clinical and genetic heterogeneity among LCA and other retinal diseases, providing patients with a molecular diagnosis is essential to assigning an a...

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Podrobná bibliografie
Vydáno v:Genes (Basel)
Hlavní autoři: Porto, Fernanda B. O., Jones, Evan M., Branch, Justin, Soens, Zachry T., Maia, Igor Mendes, Sena, Isadora F. G., Sampaio, Shirley A. M., Simões, Renata T., Chen, Rui
Médium: Artigo
Jazyk:Inglês
Vydáno: MDPI 2017
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5748673/
https://ncbi.nlm.nih.gov/pubmed/29186038
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes8120355
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