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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Ruben Jauregui1,2,3, Galaxy Y Cho1,2,4, Vitor K L Takahashi1,2,5
1Department of Ophthalmology, Columbia University, New York, NY.
Inherited retinal diseases (IRDs) cause incurable blindness in children. This review highlights key pediatric IRDs, emphasizing pedigree, electroretinography, and genetic testing for accurate diagnosis.
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