NOVEL MICROSATELLITE LOCI VARIATION AND POPULATION GENETICS WITHIN LEAFY SEADRAGONS, PHYCODURUS EQUES


Isolated and Combined Remethylation Disorders

Genetic defects affecting the remethylation pathway cause hyperhomocysteinemia.Isolated remethylation defects are caused by mutations of the 5, 10-methylenetetrahydrofolate reductase (MTHFR) , methionine synthase reductase (MTRR) , methionine synthase (MTR) , and MMADHC genes, and combined remethylation defects are the result of mutations in genes

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A new mutation in the CAVIN1/PTRF gene in two siblings with congenital generalized lipodystrophy type 4: case reports and review of the literature

Lipodystrophy syndromes are characterized by a progressive metabolic impairment secondary to adipose tissue dysfunction and may have a genetic background.Congenital generalized lipodystrophy type 4 (CGL4) is an extremely rare subtype, caused by mutations in the polymerase I and transcript release factor (PTRF) gene.It encodes for a cytoplasmatic pr

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