A female with X-linked Alport syndrome and compound heterozygous COL4A5 mutations. [electronic resource]
Producer: 20140929Description: 481-5 p. digitalISSN:- 1432-198X
- Adolescent
- Adult
- Aged
- Collagen Type IV -- genetics
- DNA Mutational Analysis
- Disease Progression
- Female
- Genes, X-Linked
- Genetic Predisposition to Disease
- Heredity
- Heterozygote
- Humans
- Kidney Failure, Chronic -- genetics
- Male
- Mosaicism
- Mutation
- Nephritis, Hereditary -- complications
- Pedigree
- Phenotype
- Prognosis
- Renal Insufficiency -- genetics
- Time Factors
- Young Adult
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Publication Type: Case Reports; Journal Article
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