X-linked, COL4A5 hypomorphic Alport mutations such as G624D and P628L may only exhibit thin basement membrane nephropathy with microhematuria and late onset kidney failure.
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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 ageingCoinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease.X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype CorrelationsRNA-seq of serial kidney biopsies obtained during progression of chronic kidney disease from dogs with X-linked hereditary nephropathy.Functional assessment of a novel COL4A5 splice region variant and immunostaining of plucked hair follicles as an alternative method of diagnosis in X-linked Alport syndrome.
P2860
X-linked, COL4A5 hypomorphic Alport mutations such as G624D and P628L may only exhibit thin basement membrane nephropathy with microhematuria and late onset kidney failure.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on July 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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X-linked, COL4A5 hypomorphic A ...... and late onset kidney failure.
@en
X-linked, COL4A5 hypomorphic A ...... and late onset kidney failure.
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type
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X-linked, COL4A5 hypomorphic A ...... and late onset kidney failure.
@en
X-linked, COL4A5 hypomorphic A ...... and late onset kidney failure.
@nl
prefLabel
X-linked, COL4A5 hypomorphic A ...... and late onset kidney failure.
@en
X-linked, COL4A5 hypomorphic A ...... and late onset kidney failure.
@nl
P2093
P2860
P1433
P1476
X-linked, COL4A5 hypomorphic A ...... and late onset kidney failure.
@en
P2093
A Pierides
M Hadjigavriel
P2860
P304
P577
2013-07-01T00:00:00Z