Homo sapiens partial COL4A3 gene for alpha3 type IV collagen, exon 1 a - Nucleotide

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Genetic diagnosis of Alport syndrome in 16 Chinese families. [Mol Genet Genomic Med. 2024]
Genetic diagnosis of Alport syndrome in 16 Chinese families.
Xiao T, Zhang J, Liu L, Zhang B. Mol Genet Genomic Med. 2024 Mar; 12(3):e2406.
Is there a dominant-negative effect in individuals with heterozygous disease-causing variants in COL4A3/COL4A4? [Clin Genet. 2024]
Is there a dominant-negative effect in individuals with heterozygous disease-causing variants in COL4A3/COL4A4?
Riedhammer KM, Simmendinger H, Tasic V, Putnik J, Abazi-Emini N, Stajic N, Berutti R, Weidenbusch M, Patzer L, Lungu A, et al. Clin Genet. 2024 Apr; 105(4):406-414. Epub 2024 Jan 12.
Pregnancy in women with autosomal recessive Alport syndrome caused by novel compound heterozygous mutations of COL4A3 gene: Two cases reports. [Medicine (Baltimore). 2023]
Pregnancy in women with autosomal recessive Alport syndrome caused by novel compound heterozygous mutations of COL4A3 gene: Two cases reports.
Gao X, Li M, Wang K, Li Z, Han C. Medicine (Baltimore). 2023 Nov 17; 102(46):e36057.