Generation of induced pluripotent stem cell line (NCKDi001-A) from a 19-year-old patient with a novel COL4A5 gene mutation in Alport syndrome.
Sign Up to like & getrecommendations! 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
Pseudoxanthoma elasticum and retinitis pigmentosa in a patient with a novel mutation in the ABCC6 gene.
Sign Up to like & getrecommendations! 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
N-Glycoprofiling of SLC35A2-CDG: Patient with a Novel Hemizygous Variant
Sign Up to like & getrecommendations! 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