ALPORT References

The web links shown below are existing online resources for ALPORT and the COL4A5 gene. Links to several review journal articles are given, as well as genome and protein links.

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Disease Information Links

• ARUP Consult
• ALPORT Resources at the University of Utah
• COL4A5 - Alport database (LOVD-Judy Savige)
• Genetics Home Reference
• OMIM
• The National Kidney Foundation

Gene and Protein Links

• COL4A5 cDNA: NC_000023.9
• COL4A5 mRNA: NM_000495.3
• COL4A5 protein: HPRD and Uniprot

Testing

• Gene Tests.org
• ARUP Full-Gene Test Code:0051786
• ARUP Targeted Mutation Test Code:0051710

Peer-Reviewed Literature

• Barker DF, Hostikka SL, Zhou J, Chow LT, Oliphant AR, Gerken SC, Gregory MC, Skolnick MH, Atkin CL, Tryggvason K. Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science 1990; 248:1224-1227.
• Gregory MC. Alport syndrome and thin basement membrane nephropathy: unraveling the tangled strands of type IV collagen. Kidney Int. 2004;65(3):1109-1110.
• Hudson BG, Tryggvason K, Sundaramoorthy M, Neilson EG. Alport’s syndrome, Goodpasture’s syndrome, and type IV collagen. N Engl J Med. 2003;348(25):2543-2556.
• Kashtan CE. Collagen IV-Related Nephropathies (Alport Syndrome and thin Basement Membrane Nephropathy); Gene Reviews; genetest.org: Last Rev. 23 January 2008 GeneTests (Accessed 8/1/2008)
• White RH, Raafat F, Milford DV, Komianou F, Moghal NE. The Alport nephropathy: clinicopathological correlations. Pediatr Nephrol. 2005;20(7):897-903.