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COL4A3 wt Allele
Known as:
Collagen, Type IV, Alpha 3 (Goodpasture Antigen) wt Allele
, Collagen IV, Alpha-3 Polypeptide Gene
, COL4A3
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Human COL4A3 wild-type allele is located within 2q36-q37 and is approximately 150 kb in length. This allele, which encodes collagen alpha-3 (IV…
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National Institutes of Health
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Related topics
Related topics
13 relations
2q36-q37
Alport Syndrome
Anti-Glomerular Basement Membrane Disease
COL4A3BP gene
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Broader (1)
COL4A3 gene
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Possible Digenic Disease in a Caucasian Family with COL4A3 and COL4A5 Mutations
Mira Choi
,
Yoland‐Marie Anistan
,
K. Eckardt
,
M. Gollasch
,
P. Nickel
Nephron
2019
Corpus ID: 58648900
Microscopic hematuria is a common feature of patients with Alport syndrome, a familial nephropathy due to mutations in COL4A3…
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2019
2019
Pseudolinear C4d deposits in a hereditary glomerulopathy caused by a rare NC1 collagen-4-alpha-5 missense mutation: a “new disease entity”?
Sanjeet Roy
,
Aasma Nalwa
,
Jared N. Keith
,
K. Weck
,
H. Singh
,
V. Nickeleit
Ultrastructural Pathology
2019
Corpus ID: 207890368
ABSTRACT C4d positive glomerulopathies with pseudolinear capillary wall deposits caused by basement membrane (GBM) remodeling…
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2018
2018
A unique evolution of the kidney phenotype in a patient with autosomal recessive Alport syndrome.
G. Vischini
,
M. Kapp
,
Ferrin C. Wheeler
,
L. Hopp
,
A. Fogo
Human Pathology
2018
Corpus ID: 3839651
2016
2016
Apports des techniques de séquençage haut débit dans le diagnostic moléculaire des néphropathies glomérulaires héréditaires
Nicolas Pottier
,
M. Frimat
,
A. Lionet
,
C. Noël
,
F. Broly
,
F. Glowacki
2016
Corpus ID: 78752366
2016
2016
Syndrome d’Alport avec mutation COL4A3 chez un patient avec ponction-biopsie rénale normale
J. Truong
,
G. Deschênes
,
P. Callard
,
C. Antignac
,
O. Niel
2016
Corpus ID: 76735542
Review
2014
Review
2014
[Analysis of the clinical audiological characteristics in 92 Chinese Alport syndrome cases].
Li Chen
,
J. Xue
,
+5 authors
Jie Ding
Zhonghua er bi yan hou tou jing wai ke za zhi…
2014
Corpus ID: 11974105
OBJECTIVE To analyze the clinical audiological characteristics in Chinese Alport syndrome, and investigate the relationship…
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Review
2013
Review
2013
A novel COL4A3 mutation causes autosomal-recessive Alport syndrome in a large Turkish family.
A. Uzak
,
B. Tokgoz
,
M. Dundar
,
M. Tekin
Genetic Testing and Molecular Biomarkers
2013
Corpus ID: 11433920
BACKGROUND Alport syndrome (AS) is a genetically heterogeneous disorder that is characterized by hematuria, progressive renal…
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2013
2013
The interface of genetics with pathology in alport nephritis.
H. Liapis
,
Sanjay Jain
Journal of the American Society of Nephrology
2013
Corpus ID: 29994705
Alport syndrome (AS) is a rare disorder characterized by deafness, ocular abnormalities, and progressive renal failure. One of…
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2005
2005
he Genetics of Thin asement Membrane Nephropathy
E. Raña
,
Yan Yan Wang
,
+6 authors
J. Savige
2005
Corpus ID: 13212570
The diagnosis of thin basement membrane nephropathy (TBMN) usually is made on the basis of the clinical features or the…
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1989
1989
Plasma levels of atrial natriuretic peptide in transient left ventricular ischemia.
R. Gasser
,
J. Dusleag
,
+6 authors
Fueger Gf
1989
Corpus ID: 11765536
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