Benign familial hematuria due to mutation of the type IV collagen alpha4 gene.
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Incidence of thin basement membrane nephropathy in 990 consecutive renal biopsies examined with electron microscopy.Alport syndrome: abnormalities of type IV collagen genes and proteins.Alport disease: a review of the diagnostic difficulties.Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.Pediatric hematuria and thin basement membrane nephropathy: what is it and what does it mean?Pathology vs. molecular genetics: (re)defining the spectrum of Alport syndrome.Epistatic role of the MYH9/APOL1 region on familial hematuria genes.Frequency of COL4A3/COL4A4 mutations amongst families segregating glomerular microscopic hematuria and evidence for activation of the unfolded protein response. Focal and segmental glomerulosclerosis is a frequent development during ageingScreening for mutations in kidney-related genes using SURVEYOR nuclease for cleavage at heteroduplex mismatches.Familial C3 glomerulopathy associated with CFHR5 mutations: clinical characteristics of 91 patients in 16 pedigreesCOL4A4 gene study of a European population: description of new mutations causing autosomal dominant Alport syndrome.Multiple kidney cysts in thin basement membrane disease with proteinuria and kidney function impairment.Phenotype/genotype correlations in the ultrastructure of monogenetic glomerular diseases.The role of molecular genetics in diagnosing familial hematuria(s).X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype CorrelationsA functional variant in NEPH3 gene confers high risk of renal failure in primary hematuric glomerulopathies. Evidence for predisposition to microalbuminuria in the general population.A Novel COL4A4 Mutation Identified in a Chinese Family with Thin Basement Membrane Nephropathy.Molecular genetics of familial hematuric diseases.The expanding phenotypic spectra of kidney diseases: insights from genetic studies.Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy.Kidney development and perspectives for organ engineering.Co-existence of thin basement membrane nephropathy with other glomerular pathologies; a single center experience.Regulation of the paired type IV collagen genes COL4A5 and COL4A6. Role of the proximal promoter region.ALPORTS NEPHRITIS: A Report of Two CasesHaematuria in asymptomatic individuals.Exome analysis resolves differential diagnosis of familial kidney disease and uncovers a potential confounding variant.Collagen type IV-related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 families.The triple helix of collagens - an ancient protein structure that enabled animal multicellularity and tissue evolution.A further genetic cause of thin basement membrane nephropathy.
P2860
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P2860
Benign familial hematuria due to mutation of the type IV collagen alpha4 gene.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on September 1996
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Benign familial hematuria due to mutation of the type IV collagen alpha4 gene.
@en
Benign familial hematuria due to mutation of the type IV collagen alpha4 gene.
@nl
type
label
Benign familial hematuria due to mutation of the type IV collagen alpha4 gene.
@en
Benign familial hematuria due to mutation of the type IV collagen alpha4 gene.
@nl
prefLabel
Benign familial hematuria due to mutation of the type IV collagen alpha4 gene.
@en
Benign familial hematuria due to mutation of the type IV collagen alpha4 gene.
@nl
P2093
P2860
P356
P1476
Benign familial hematuria due to mutation of the type IV collagen alpha4 gene.
@en
P2093
Brunner HG
Lemmink HH
Mochizuki T
Monnens LA
Nillesen WN
Schröder CH
van Oost BA
P2860
P304
P356
10.1172/JCI118893
P407
P577
1996-09-01T00:00:00Z