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Mostrando ítems 141-143 de 143
A distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencing
(2015-10-04)
Biallelic FAM20A mutations cause two conditions where Amelogenesis Imperfecta (AI) is the presenting feature: Amelogenesis Imperfecta and Gingival Fibromatosis Syndrome; and Enamel Renal Syndrome. A distinctive oral phenotype ...
Variation in the whole mitogenome of reef-building Porites corals
(2016)
The study of complete mitochondrial genomes (mitogenomes) revealed different gene rearrangements, highly variable markers, and delineated clades that have aided the understanding of the evolutionary history in corals. In ...
Varios genes descartados como causantes de retinosis pigmentaria autosómica recesiva en dos familias costarricenses
(1998-07)
Se estudiaron dos familias costarricenses con Retinosis Pigmentaria (RP) de herencia autosomica recesiva, con el fin de descartar genes relacionados con la enfermedad. Para esto se efectuó un análisis de ligamiento con ...