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Journal Article
Journal Article
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 2014, Volume 58, Issue 1, pp. 35 - 38
Abstract Bilateral sensorineural hearing loss is a characteristic feature of Alport syndrome, which is always linked to renal manifestations so they have a... 
Medical Education | Autosomal dominant | Lenticonus | COL4A3 gene | Alport syndrome | DISEASE | GENETICS & HEREDITY | FAMILIAL HEMATURIA | Hearing Loss - genetics | Young Adult | Humans | Middle Aged | Adolescent | Collagen Type IV - genetics | Nephritis, Hereditary - genetics | Adult | Female | Mutation | Autoantigens - genetics | Deafness | Family | Genetic aspects | Genes | Hearing loss | Index Medicus
Journal Article
International Journal of Molecular Epidemiology and Genetics, ISSN 1948-1756, 2014, Volume 5, Issue 4, pp. 177 - 184
Autosomal forms of Alport syndrome represent 20% of all patients (15% recessive and 5% dominant). They are caused by mutations in the COL4A3 and COL4A4 genes,... 
Spicing | COL4A4 gene | Autosomal alport syndrome | Missense
Journal Article
NEPHROLOGY DIALYSIS TRANSPLANTATION, ISSN 0931-0509, 11/2002, Volume 17, Issue 11, pp. 1897 - 1908
Journal Article
Nephrology, ISSN 1320-5358, 10/2018, Volume 23, Issue 10, pp. 940 - 947
The study revealed that 69% of families with hereditary nephritis that was difficult to diagnose clinicopathologically had heterozygous mutations of COL4A3/A4... 
thin basement membrane nephropathy | COL4A4 | COL4A3 | lport syndrome | autosomal dominant | type | collagen α5 chain | autosomal dominant Alport syndrome | type IV collagen α5 chain | X-CHROMOSOME | COL4A4 GENE | type IV collagen 5 chain | PROTEINURIA | FAMILIAL HEMATURIA | NATURAL-HISTORY | BASEMENT-MEMBRANE NEPHROPATHY | RENAL-FAILURE | UROLOGY & NEPHROLOGY | MUTATIONS | FOCAL SEGMENTAL GLOMERULOSCLEROSIS | LINKED ALPORT-SYNDROME | Predictive Value of Tests | Nephritis, Hereditary - pathology | Prognosis | Kidney - pathology | Humans | Middle Aged | Male | Hematuria - genetics | Autoantigens - genetics | DNA Mutational Analysis | Hematuria - complications | Adult | Female | Retrospective Studies | Kidney - physiopathology | Genetic Predisposition to Disease | Nephritis, Hereditary - complications | Nephritis, Hereditary - genetics | Heredity | Disease Progression | Kidney - ultrastructure | Phenotype | Biopsy | Pedigree | Collagen Type IV - genetics | Heterozygote | Aged | Mutation | Hematuria - pathology | Kidney Failure, Chronic - etiology | Nephritis | Chronic kidney failure | Analysis | Collagen | Development and progression | Family | Diagnosis | Genetic screening | Glomerulonephritis | Renal function | Electron microscopy | Sclerosis | Splitting | Nephropathy | Thinning | Alport syndrome | Collagen (type IV) | Proteinuria | Index Medicus
Journal Article
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 12/2000, Volume 21, Issue 4, pp. 217 - 225
Most patients with Alport syndrome have X-linked or autosomal recessive disease that is characterised by renal failure, hearing loss, and, in nearly 75% of the... 
Dot-and-fleck retinopathy | Autosomal dominant Alport syndrome | Corneal dystrophy | Fechtner syndrome | Anterior lenticonus
Journal Article
Saudi Journal of Kidney Diseases and Transplantation, ISSN 1319-2442, 01/2006, Volume 17, Issue 3, pp. 320 - 325
Alport′s syndrome is a hereditary nephritis that may lead to end-stage renal disease (ESRD) in early adult life. It is a clinically and genetically... 
Autosomal dominant | Hereditary nephritis | Alport′s syndrome
Journal Article
NEFROLOGIA, ISSN 0211-6995, 2005, Volume 25, pp. 29 - 32
Recent evidence has shown that the COL4A3, COL4A4 and COL4A5 genes are involved in different renal manifestations. Mutations in these collagen type IV genes... 
COL4A4 GENE | ADULTS | familial benign hematuria | IDENTIFICATION | BENIGN FAMILIAL HEMATURIA | COL4A4 | Alport syndrome | COL4A3 | BASEMENT-MEMBRANE NEPHROPATHY | DISEASE | RENAL-FAILURE | UROLOGY & NEPHROLOGY | DOMINANT ALPORT-SYNDROME | AUTOSOMAL-DOMINANT | collagen IV nephropathy | MUTATIONS
Journal Article
Journal Article