Women and Alport syndrome.
Rheault, Michelle N.
; 27(1): 41-6, 2012 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-21380623
A female with X-linked Alport syndrome and compound heterozygous COL4A5 mutations.
Macroscopic hematuria with normal renal biopsy-following the chain to the diagnosis: Answers.
Collagen type IV-related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 families.
X-linked Alport syndrome associated with a synonymous p.Gly292Gly mutation alters the splicing donor site of the type IV collagen alpha chain 5 gene.
Autosomal dominant form of type IV collagen nephropathy exists among patients with hereditary nephritis difficult to diagnose clinicopathologically.
Natural history of genetically proven autosomal recessive Alport syndrome.
Glomerular pathology in Alport syndrome: a molecular perspective.
Milder clinical aspects of X-linked Alport syndrome in men positive for the collagen IV α5 chain.
Identification of a novel collagen type IV alpha-4 (<i>COL4A4</i>) mutation in a Chinese family with autosomal dominant Alport syndrome using exome sequencing.