Articles with "patient novel" as a keyword



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Generation of induced pluripotent stem cell line (NCKDi001-A) from a 19-year-old patient with a novel COL4A5 gene mutation in Alport syndrome.

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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… read more here.

Keywords: col4a5 gene; gene mutation; novel col4a5; patient novel ... See more keywords
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Pseudoxanthoma elasticum and retinitis pigmentosa in a patient with a novel mutation in the ABCC6 gene.

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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… read more here.

Keywords: patient novel; retinitis pigmentosa; patient; pseudoxanthoma elasticum ... See more keywords
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N-Glycoprofiling of SLC35A2-CDG: Patient with a Novel Hemizygous Variant

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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… read more here.

Keywords: patient novel; variant; glycoprofiling slc35a2; slc35a2 cdg ... See more keywords