Matches in SemOpenAlex for { <https://semopenalex.org/work/W4200038503> ?p ?o ?g. }
Showing items 1 to 96 of
96
with 100 items per page.
- W4200038503 endingPage "e27890" @default.
- W4200038503 startingPage "e27890" @default.
- W4200038503 abstract "Alport syndrome (AS) is an inherited progressive renal failure, characterized by kidney disease, hearing loss, and eye abnormalities.A 7-year-old male child was admitted for persistent microscopic hematuria and proteinuria.Combined with clinical manifestations, laboratory testing, pathological changes of kidney and sequencing results, the patient was diagnosed as AS.The patient was treated with ACEI and tacrolimus drugs for 2 years, but continued to have hematuria and proteinuria. Thus, a genetic analysis was performed using next-generation sequencing in four affected members from the family.The findings revealed triple compound heterozygous mutation of COL4A4: three novel variations, c.1045C>T (p. R349X), c.3505+1G>A (splicing), and c.2165G>A (p. G722D).This study was novel in finding that a triple variant of the COL4A4 gene simultaneously in trans and in cis. The effects of multiple mutation sites and the type of gene mutation in AS were also underlined." @default.
- W4200038503 created "2021-12-31" @default.
- W4200038503 creator A5003661484 @default.
- W4200038503 creator A5008710983 @default.
- W4200038503 creator A5030918294 @default.
- W4200038503 creator A5035085963 @default.
- W4200038503 creator A5060708223 @default.
- W4200038503 creator A5068242622 @default.
- W4200038503 creator A5078511472 @default.
- W4200038503 creator A5083436758 @default.
- W4200038503 date "2021-11-24" @default.
- W4200038503 modified "2023-09-26" @default.
- W4200038503 title "A novel compound heterozygous COL4A4 mutation in a Chinese family with Alport syndrome" @default.
- W4200038503 cites W1991897687 @default.
- W4200038503 cites W2010720355 @default.
- W4200038503 cites W2021828984 @default.
- W4200038503 cites W2080203995 @default.
- W4200038503 cites W2119450370 @default.
- W4200038503 cites W2124964208 @default.
- W4200038503 cites W2125903388 @default.
- W4200038503 cites W2127923616 @default.
- W4200038503 cites W2417586610 @default.
- W4200038503 cites W2803949728 @default.
- W4200038503 cites W4211157962 @default.
- W4200038503 doi "https://doi.org/10.1097/md.0000000000027890" @default.
- W4200038503 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34964757" @default.
- W4200038503 hasPublicationYear "2021" @default.
- W4200038503 type Work @default.
- W4200038503 citedByCount "0" @default.
- W4200038503 crossrefType "journal-article" @default.
- W4200038503 hasAuthorship W4200038503A5003661484 @default.
- W4200038503 hasAuthorship W4200038503A5008710983 @default.
- W4200038503 hasAuthorship W4200038503A5030918294 @default.
- W4200038503 hasAuthorship W4200038503A5035085963 @default.
- W4200038503 hasAuthorship W4200038503A5060708223 @default.
- W4200038503 hasAuthorship W4200038503A5068242622 @default.
- W4200038503 hasAuthorship W4200038503A5078511472 @default.
- W4200038503 hasAuthorship W4200038503A5083436758 @default.
- W4200038503 hasBestOaLocation W42000385031 @default.
- W4200038503 hasConcept C104317684 @default.
- W4200038503 hasConcept C12125453 @default.
- W4200038503 hasConcept C126322002 @default.
- W4200038503 hasConcept C142724271 @default.
- W4200038503 hasConcept C194583182 @default.
- W4200038503 hasConcept C2776908417 @default.
- W4200038503 hasConcept C2778653478 @default.
- W4200038503 hasConcept C2779561371 @default.
- W4200038503 hasConcept C2780091579 @default.
- W4200038503 hasConcept C2780368995 @default.
- W4200038503 hasConcept C2994225774 @default.
- W4200038503 hasConcept C36823959 @default.
- W4200038503 hasConcept C501734568 @default.
- W4200038503 hasConcept C54355233 @default.
- W4200038503 hasConcept C62257209 @default.
- W4200038503 hasConcept C71924100 @default.
- W4200038503 hasConcept C86803240 @default.
- W4200038503 hasConceptScore W4200038503C104317684 @default.
- W4200038503 hasConceptScore W4200038503C12125453 @default.
- W4200038503 hasConceptScore W4200038503C126322002 @default.
- W4200038503 hasConceptScore W4200038503C142724271 @default.
- W4200038503 hasConceptScore W4200038503C194583182 @default.
- W4200038503 hasConceptScore W4200038503C2776908417 @default.
- W4200038503 hasConceptScore W4200038503C2778653478 @default.
- W4200038503 hasConceptScore W4200038503C2779561371 @default.
- W4200038503 hasConceptScore W4200038503C2780091579 @default.
- W4200038503 hasConceptScore W4200038503C2780368995 @default.
- W4200038503 hasConceptScore W4200038503C2994225774 @default.
- W4200038503 hasConceptScore W4200038503C36823959 @default.
- W4200038503 hasConceptScore W4200038503C501734568 @default.
- W4200038503 hasConceptScore W4200038503C54355233 @default.
- W4200038503 hasConceptScore W4200038503C62257209 @default.
- W4200038503 hasConceptScore W4200038503C71924100 @default.
- W4200038503 hasConceptScore W4200038503C86803240 @default.
- W4200038503 hasIssue "47" @default.
- W4200038503 hasLocation W42000385031 @default.
- W4200038503 hasLocation W42000385032 @default.
- W4200038503 hasLocation W42000385033 @default.
- W4200038503 hasLocation W42000385034 @default.
- W4200038503 hasOpenAccess W4200038503 @default.
- W4200038503 hasPrimaryLocation W42000385031 @default.
- W4200038503 hasRelatedWork W1980677706 @default.
- W4200038503 hasRelatedWork W1988229100 @default.
- W4200038503 hasRelatedWork W2029712648 @default.
- W4200038503 hasRelatedWork W2045138894 @default.
- W4200038503 hasRelatedWork W2146123040 @default.
- W4200038503 hasRelatedWork W2162187627 @default.
- W4200038503 hasRelatedWork W2343552967 @default.
- W4200038503 hasRelatedWork W2356507452 @default.
- W4200038503 hasRelatedWork W3032536448 @default.
- W4200038503 hasRelatedWork W4200038503 @default.
- W4200038503 hasVolume "100" @default.
- W4200038503 isParatext "false" @default.
- W4200038503 isRetracted "false" @default.
- W4200038503 workType "article" @default.