Genotype–phenotype correlations for COL4A3–COL4A5 variants resulting in Gly substitutions in Alport...
Genotype–phenotype correlations for COL4A3–COL4A5 variants resulting in Gly substitutions in Alport syndrome
About this item
Full title
Author / Creator
Gibson, Joel T. , Huang, Mary , Shenelli Croos Dabrera, Marina , Shukla, Krushnam , Rothe, Hansjörg , Hilbert, Pascale , Deltas, Constantinos , Storey, Helen , Lipska-Ziętkiewicz, Beata S. , Chan, Melanie M. Y. , Sadeghi-Alavijeh, Omid , Gale, Daniel P. , Cerkauskaite, Agne , Savige, Judy and Genomics England Research Consortium
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
Alport syndrome is the commonest inherited kidney disease and nearly half the pathogenic variants in the
COL4A3–COL4A5
genes that cause Alport syndrome result in Gly substitutions. This study examined the molecular characteristics of Gly substitutions that determine the severity of clinical features. Pathogenic
COL4A5
variants affecting...
Alternative Titles
Full title
Genotype–phenotype correlations for COL4A3–COL4A5 variants resulting in Gly substitutions in Alport syndrome
Authors, Artists and Contributors
Author / Creator
Huang, Mary
Shenelli Croos Dabrera, Marina
Shukla, Krushnam
Rothe, Hansjörg
Hilbert, Pascale
Deltas, Constantinos
Storey, Helen
Lipska-Ziętkiewicz, Beata S.
Chan, Melanie M. Y.
Sadeghi-Alavijeh, Omid
Gale, Daniel P.
Cerkauskaite, Agne
Savige, Judy
Genomics England Research Consortium
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_864c1ed9fcad4e3fa88284e259fc2a5f
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_864c1ed9fcad4e3fa88284e259fc2a5f
Other Identifiers
ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/s41598-022-06525-9
