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COL4A4 gene

Known as: COLLAGEN OF BASEMENT MEMBRANE, ALPHA-4 CHAIN, CA44, COLLAGEN, TYPE IV, ALPHA-4 
National Institutes of Health

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COL4A1 gene

Papers overview

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2016
2016
Alport syndrome and pregnancy: Good obstetric and nephrological outcomes in a pregnant woman with homozygous autosomal recessive Alport syndrome
We describe the course of pregnancy in a 27‐year‐old woman with homozygous autosomal recessive Alport syndrome. Genetic analysis… 
2016
2016
A novel heterozygous COL4A4 missense mutation in a Chinese family with focal segmental glomerulosclerosis
Focal segmental glomerulosclerosis (FSGS) is the most common glomerular histological lesion associated with high‐grade… 
2015
2015
Collagen type IV-related nephropathies in Portugal: pathogenicCOL4A3andCOL4A4mutations and clinical characterization of 25 families: Collagen type IV-related nephropathies in Portugal
2014
2014
COL4A4-related nephropathy caused by a novel mutation in a large consanguineous Saudi family.
2014
2014
COL4A4 gene study of a European population: description of new mutations causing autosomal dominant Alport syndrome.
BACKGROUND Autosomal forms of Alport syndrome represent 20% of all patients (15% recessive and 5% dominant). They are caused by… 
2013
2013
The interface of genetics with pathology in alport nephritis.
Alport syndrome (AS) is a rare disorder characterized by deafness, ocular abnormalities, and progressive renal failure. One of… 
2009
2009
Identification of novel variants in the COL4A4 gene in Korean patients with thin basement membrane nephropathy.
BACKGROUND & OBJECTIVE The alpha4 chain of the type 4 collagen family is an important component of the glomerular basement… 
2008
2008
Deletion 2q36.2q36.3 with multiple renal cysts and severe mental retardation.
2002
2002
Three novel COL4A4 mutations resulting in stop codons and their clinical effects in autosomal recessive Alport syndrome
Autosomal recessive Alport syndrome is caused by mutations in the COL4A3 and COL4A4 genes which code for the α3 and α4 chains of… 
2001
2001
Benign familial hematuria associated with a novel COL4A4 mutation
Abstract. We describe a father and three offspring with hematuria. The father and one girl also complained of flank pain. Renal… 
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