[HTML][HTML] Phenotype variability in a large Spanish family with Alport syndrome associated with novel mutations in COL4A3 gene
C Cervera-Acedo, A Coloma, E Huarte-Loza… - BMC nephrology, 2017 - Springer
Background Alport syndrome is an inherited renal disorder characterized by glomerular
basement membrane lesions with hematuria, proteinuria and frequent hearing defects and …
basement membrane lesions with hematuria, proteinuria and frequent hearing defects and …
A Novel COL4A3 Mutation Causes Autosomal-Recessive Alport Syndrome in a Large Turkish Family
AS Uzak, B Tokgoz, M Dundar… - Genetic testing and …, 2013 - liebertpub.com
Background: Alport syndrome (AS) is a genetically heterogeneous disorder that is
characterized by hematuria, progressive renal failure typically resulting in end-stage renal …
characterized by hematuria, progressive renal failure typically resulting in end-stage renal …
[HTML][HTML] A novel mutation in a Kazakh family with X-linked Alport syndrome
BT Baikara, EV Zholdybayeva, SE Rakhimova… - Plos one, 2015 - journals.plos.org
Alport syndrome is a genetic condition that results in hematuria, progressive renal
impairment, hearing loss, and occasionally lenticonus and retinopathy. Approximately 80 …
impairment, hearing loss, and occasionally lenticonus and retinopathy. Approximately 80 …
Novel Mutations of COL4A5 Identified in Chinese Families with X‐Linked Alport Syndrome and Literature Review
W Gong, F Liu, L Yin, J Zhang - BioMed Research International, 2021 - Wiley Online Library
Alport syndrome (AS) is an inherited kidney disease caused by defects in type IV collagen,
which is characterized by hematuria, progressive nephritis or end‐stage renal disease …
which is characterized by hematuria, progressive nephritis or end‐stage renal disease …
[HTML][HTML] COL4A4 gene study of a European population: description of new mutations causing autosomal dominant Alport syndrome
C Rosado, E Bueno, C Felipe… - … Journal of Molecular …, 2014 - ncbi.nlm.nih.gov
Background: 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 …
recessive and 5% dominant). They are caused by mutations in the COL4A3 and COL4A4 …
Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families
I Longo, E Scala, F Mari, R Caselli… - Nephrology Dialysis …, 2006 - academic.oup.com
Background. Alport syndrome (ATS) is a progressive inherited nephropathy characterized by
irregular thinning, thickening and splitting of the glomerular basement membrane (GBM) …
irregular thinning, thickening and splitting of the glomerular basement membrane (GBM) …
[HTML][HTML] A disease-causing variant of COL4A5 in a Chinese family with Alport syndrome: a case series
J Wu, J Zhang, L Liu, B Zhang, T Yamamura, K Nozu… - BMC nephrology, 2021 - Springer
Background Alport syndrome (AS), which is a rare hereditary disease caused by mutations
of genes including COL4A3, COL4A4 and COL4A5, has a wide spectrum of phenotypes …
of genes including COL4A3, COL4A4 and COL4A5, has a wide spectrum of phenotypes …
Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome
E Marcocci, V Uliana, M Bruttini, R Artuso… - Nephrology Dialysis …, 2009 - academic.oup.com
Background. Alport syndrome is a clinically and genetically heterogeneous nephropathy
characterized by glomerular basement membrane lesions often associated with hearing loss …
characterized by glomerular basement membrane lesions often associated with hearing loss …
[HTML][HTML] Identification of a Novel COL4A4 Variant in Compound-Heterozygous State in a Patient With Alport Syndrome and Histological Findings Similar to Focal …
F Zhu, W Li, Z Li, H Zhu, J Xiong - Frontiers in Genetics, 2019 - frontiersin.org
Alport syndrome (AS) is a rare and inherited renal disorder with an autosomal recessive
mode of inheritance. AS patients usually manifest with hematuria and progressive renal …
mode of inheritance. AS patients usually manifest with hematuria and progressive renal …
Autosomal recessive Alport syndrome unveiled by pregnancy
ER Drury, IE Stillman, MR Pollak, BM Denker - Nephron, 2019 - karger.com
Alport syndrome is a hereditary disease affecting Type IV collagen characterized by
hematuria, progressive renal failure, sensorineural hearing loss, and ocular abnormalities …
hematuria, progressive renal failure, sensorineural hearing loss, and ocular abnormalities …
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