Article
The clinical spectrum of type IV collagen mutations.
Human mutation - 1 Jan 1997
Lemmink H H, Schröder C H, Monnens L A, Smeets H J
Abstract excerpt
Clinical manifestations of type IV collagen mutations can vary from the severe, clinically and genetically heterogeneous renal disorder, Alport syndrome, to autosomal dominant familial benign hematuria. The predominant form of Alport syndrome is X-linked; more than 160 different mutations have ye...
Topics
- Adult
- Child
- Codon, Terminator
- Collagen
- Deafness
- Gene Expression
- Gene Rearrangement
- Genotype
- Glomerulonephritis
- Hematuria
- Humans
- Leiomyomatosis
- Molecular Structure
- Mutation
- Nephritis, Hereditary
- Phenotype
- Point Mutation