Πλοήγηση ανά Θέμα "exome"
Αποτελέσματα 1-3 από 3
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Ancestry of the Timorese: Age-related macular degeneration associated genotype and allele sharing among human populations from throughout the world
(2015)We observed that the third leading cause of blindness in the world, age-related macular degeneration (AMD), occurs at a very low documented frequency in a population-based cohort from Timor-Leste. Thus, we determined a ... -
Identification of a novel de novo KMT2B variant in a Greek dystonia patient via exome sequencing genotype–phenotype correlations of all published cases
(2021)Mutations in Lysine-Specific Histone Methyltransferase 2B gene (KMT2B) have been reported to be associated with isolated and complex early-onset generalized dystonia. We describe clinico-genetic features on a Greek patient ... -
Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration
(2014)Neurodegenerative diseases affecting the macula constitute amajor cause of incurable vision loss and exhibit considerable clinical and genetic heterogeneity, from early-onset monogenic disease to multifactorial lateonset ...