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Kinetic characterization of hypophosphatasia mutations with physiological substrates
(Amer Soc Bone & Mineral Res, 2014)
Identification of six new alleles at the FUT1 and FUT2 loci in ethnically diverse individuals with Bombay and para-Bombay phenotypes
(Blackwell PublishingOxfordInglaterra, 2006)
A naturally occurring deletion in the SRY promoter region affecting the Sp1 binding site is associated with sex reversal
(Editrice Kurtis S R LMilanItália, 2005)
Kinact: a computational approach for predicting activating missense mutations in protein kinases
(Oxford University Press, 2019)
Functional evidence implicating NOTCH2 missense mutations in primary ovarian insufficiency etiology
Primary ovarian insufficiency (POI) is a frequently occurring disease affecting women under 40 years old. Recently, we have analyzed unrelated POI women via whole exome sequencing (WES) and identified NOTCH2 mutations ...
Familial Pseudo-Wolff-Parkinson-White Syndrome
(2006)
Introduction: PRKAG2 plays a role in regulating metabolic pathways, and mutations in this gene are associated with familial ventricular preexcitation, hypertrophic cardiomyopathy, and atrioventricular conduction disturbances. ...