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Phylogenetic relationships in Bulbostylis (Abildgaardieae: Cyperaceae) inferred from nuclear and plastid DNA sequence data
(Taylor & Francis, 2018)
Previous molecular phylogenetic analyses of the family Cyperaceae based on rbcL sequences showed Bulbostylis as
paraphyletic, with B. atrosanguinea and B. hispidula forming a clade with Nemum spadiceum. On the contrary, ...
Identification and functional analysis of missense mutations in the lecithin cholesterol acyltransferase gene in a Chilean patient with hypoalphalipoproteinemia
(2019)
Abstract
Background
Lecithin-cholesterol acyltransferase (LCAT) is a plasma enzyme that esterifies cholesterol in high- and low-density lipoproteins (HDL and LDL). Mutations ...
Genoma Humano. Aspectos estructurales
(Udelar. FC, 2018)
El genoma humano, como el de todos los mamíferos y aves, es un mosaico de isocoros, los que son regiones muy largas de ADN (>> 100 kb) que son homogéneas en cuanto a su composición de bases. Los isocoros pueden ser divididos ...
Andermann syndrome in a pakistani family caused by a novel mutation in SLC12A6
(Elsevier, 2017)
Agenesis of the corpus callosum with peripheral neuropathy (ACCPN) or Andermann syndrome is an autosomal recessive condition caused by mutations in SLC12A6. The neurodegenerative features are characterized primarily by ...
Andermann syndrome in a pakistani family caused by a novel mutation in SLC12A6
(Elsevier, 2017)
Agenesis of the corpus callosum with peripheral neuropathy (ACCPN) or Andermann syndrome is an autosomal recessive condition caused by mutations in SLC12A6. The neurodegenerative features are characterized primarily by ...
The anolis lizard genome: an amniote genome without isochores?
(Oxford University Press, 2016)
Two articles published 5 years ago concluded that the genome of the lizard Anolis carolinensis is an amniote genome without isochores. This claim was apparently contradicting previous results on the general presence of an ...
Citosine-adenine-repeat microsatellite of 11β-hydroxysteroid dehydrogenase 2 gene in hypertensive children
(2016-01-01)
BACKGROUND The impairment of 11β-hydroxysteroid dehydrogenase type 2 enzyme (11βHSD2) results in an inefficient conversion of cortisol to cortisone, which triggers hypertension. Cytosine-adenine repeat (CA repeat) ...