Novel human pathological mutations. Gene symbol: COL4A5. Disease: Alport syndrome

Hum Genet. 2007 Nov;122(3-4):414.

Authors

Angelo Minucci¹, Ettore Capoluongo, Paola Concolino, Santonocito Concetta, Cecilia Zuppi, Bruno Giardina

Affiliation

¹ Catholic University of Rome, Institute of Biochemistry and Clinical Biochemistry, Largo F. Vito, 1, 00168, Roma, Italy.

PMID: 18350645

No abstract available

MeSH terms

Amino Acid Substitution
Codon, Nonsense
Collagen Type IV / genetics*
Female
Humans
Male
Nephritis, Hereditary / genetics*

Substances

COL4A5 protein, human
Codon, Nonsense
Collagen Type IV