Clinical, histopathological, and in silico pathogenicity analyses in a pedigree with familial amyloidosis of the Finnish type (Meretoja syndrome) caused by a novel gelsolin mutatio...

di Cabral-Macias, Jesus, Garcia-Montaño, Leopoldo A., Pérezpeña-Díazconti, Mario, Aguilar, Marisa-Cruz, Garcia, Guillermo, Vencedor-Meraz, Carlos I., Graue-Hernandez, Enrique O., Chacón-Camacho, Oscar F., Zenteno, Juan C.
Pubblicato in Mol Vis (2020)

Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next‐generation sequencing

di Zenteno, Juan C., García‐Montaño, Leopoldo A., Cruz‐Aguilar, Marisa, Ronquillo, Josué, Rodas‐Serrano, Agustín, Aguilar‐Castul, Luis, Matsui, Rodrigo, Vencedor‐Meraz, Carlos I., Arce‐González, Rocío, Graue‐Wiechers, Federico, Gutiérrez‐Paz, Mario, Urrea‐Victoria, Tatiana, de Dios Cuadras, Ulises, Chacón‐Camacho, Oscar F.
Pubblicato in Mol Genet Genomic Med (2019)