Browsing by Subject "Mutation"
Now showing items 1-3 of 3
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Characterization of new mutations in transferrin, DMT1 and SEC23B causing rare iron metabolism-related diseases; and the discovery of RACGAP1 as the gene responsible for autosomal recessive congenital dyserythropoietic anaemia type III
(Date of defense: 2023-11-25)Iron is a biometal involved in many physiological processes that are essential for life. Iron metabolism is a complex and tightly regulated process both at the systemic and cellular level. Proper iron ... -
New cases of hypochromic microcytic anemia due to mutations in the SLC11A2 gene and functional characterization of the G75R mutation
(International Journal of Molecular Sciences, 2022)Divalent metal-iron transporter 1 (DMT1) is a mammalian iron transporter encoded by the SLC11A2 gene. DMT1 has a vital role in iron homeostasis by mediating iron uptake in the intestine and kidneys and ... -
A two-base deletion in exon 6 of the 3-hydroxy-3- methylglutaryl coenzyme A lyase (HL) gene producing the skipping of exons 5 and 6 determines 3- hydroxy-3-methylglutaric aciduria
(Journal of Lipid Research, 1997)A novel two-base deletion in the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene was found in a Spanish patient with homozygous 3-hydroxy-3-methylglutaric aciduria. Amplification by RT-PCR of the ...