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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 
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… Expand
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
  • J. Savige
  • Kidney international reports
  • 2018
  • Corpus ID: 53565561
S everal recent studies have reported a single pathogenic COL4A3 or COL4A4 mutation in up to 30% of individuals undergoing… Expand
Highly Cited
2013
Highly Cited
2013
Alport syndrome is an inherited disease characterized by hematuria, progressive renal failure, hearing loss, and ocular… Expand
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2013
2013
COL4A3 protein belongs to type IV collagen family and is closely linked to kidney diseases and cancer. To clarify the roles of… Expand
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2011
2011
BACKGROUND AND OBJECTIVES Alport syndrome (AS) is a predominantly X-linked hereditary nephritis associated with high-tone… Expand
Highly Cited
2009
Highly Cited
2009
BACKGROUND Heterozygous mutations in the COL4A3/ COL4A4 genes are currently thought to be responsible for familial benign… Expand
2006
2006
A heterozygous mutation in autosomal Alport genes COL4A3 and COL4A4 can be found in 20 to 50% of individuals with familial benign… Expand
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Highly Cited
2004
Highly Cited
2004
BACKGROUND Alport syndrome is a clinically and genetically heterogeneous nephropathy. The majority of cases are transmitted as an… Expand
Highly Cited
1995
Highly Cited
1995
Alport syndrome is a mainly X-linked hereditary disease of basement membranes characterized by progressive renal failure… Expand
1995
1995
Autosomal recessive Alport syndrome can arise from a mutation in either of the genes COL4A3 and COL4A4 on chromosome 2, which… Expand
Highly Cited
1989
Highly Cited
1989
Thin basement membrane nephropathy. Thin basement membrane nephropathy (TBMN) is the most common cause of persistent glomerular… Expand