Genotype-phenotype correlation in X-linked Alport syndrome patients carrying missense mutations in the collagenous domain of COL4A5
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2012.01849.x/fullpdf
Reference7 articles.
1. HGMD. 2010 http://www.hgmd.org/
2. X-linked Alport syndrome: natural history in 195 families and genotype-phenotype correlations in males.;Jais;J Am Soc Nephrol,2000
3. Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling.;Gross;Nephrol Dial Transplant,2002
4. Genotype-phenotype correlation in X-linked Alport syndrome.;Bekheirnia;J Am Soc Nephrol,2010
5. Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders.;Persikov;Hum Mutat,2004
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1. A deep intronic splice variant of the COL4A5 gene in a Chinese family with X-linked Alport syndrome;Frontiers in Pediatrics;2023-01-13
2. Novel and Founder Pathogenic Variants in X-Linked Alport Syndrome Families in Greece;Genes;2022-11-24
3. A Comparative Presentation of Mouse Models That Recapitulate Most Features of Alport Syndrome;Genes;2022-10-18
4. Mutation Analysis of Thin Basement Membrane Nephropathy;Genes;2022-10-02
5. Genotype–phenotype correlations for COL4A3–COL4A5 variants resulting in Gly substitutions in Alport syndrome;Scientific Reports;2022-02-17
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