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Published in 2020 at "Stem cell research"
DOI: 10.1016/j.scr.2020.102023
Abstract: The clinical manifestations of Alport syndrome may vary depending on the involved organs such as the kidneys, cochlea and eyes. The pathogenic genes involved are those encoding different chains of type IV collagen. We collected…
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Keywords:
col4a5 gene;
gene mutation;
novel col4a5;
patient novel ... See more keywords
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Published in 2023 at "Ophthalmic genetics"
DOI: 10.1080/13816810.2023.2219737
Abstract: BACKGROUND Pseudoxanthoma elasticum (PXE) is an autosomal recessive condition caused by mutations in the ABCC6 gene. Ocular features include angioid streaks, peau d'orange fundus, and drusen. We report a novel ABCC6 mutation causing PXE in…
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Keywords:
patient novel;
retinitis pigmentosa;
patient;
pseudoxanthoma elasticum ... See more keywords
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2
Published in 2023 at "Biomedicines"
DOI: 10.3390/biomedicines11020580
Abstract: Congenital disorders of glycosylation (CDG) are a group of rare inherited metabolic disorders caused by a defect in the process of protein glycosylation. In this work, we present a comprehensive glycoprofile analysis of a male…
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Keywords:
patient novel;
variant;
glycoprofiling slc35a2;
slc35a2 cdg ... See more keywords