Lorena Santa María

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Complete achromatopsia is genetically heterogeneous and segregates with mutations in CNGA3 or CNGB3 genes, which respectively encode for α- and β-subunits of the cyclic-nucleotide-gated (CNG) cation(More)
Intellectual disability (ID) and global development delay (GDD) are caused by genetic factors such as subtelomeric rearrangements (SR) in 25 % of patients. There are several assays currently(More)
Conflict of Interest: None Correspondence to: Dr. Vı́ctor Faundes, Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnologı́a de los Alimentos (INTA), Universidad de(More)
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