Deletions in the COL4A5 collagen gene in X-linked Alport syndrome. Characterization of the pathological transcripts in nonrenal cells and correlation with disease expression.

The type IV collagen alpha 5 chain (COL4A5) gene of 88 unrelated male patients with X-linked Alport syndrome was tested for major gene rearrangements by Southern blot analysis, using COL4A5 cDNA probes. 14 different deletions were detected, providing a 16% deletion rate in the COL4A5 gene in the pat...

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Detalhes bibliográficos
Main Authors: Antignac, C, Knebelmann, B, Drouot, L, Gros, F, Deschênes, G, Hors-Cayla, M C, Zhou, J, Tryggvason, K, Grünfeld, J P, Broyer, M
Formato: Artigo
Idioma:Inglês
Publicado em: 1994
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC294071/
https://ncbi.nlm.nih.gov/pubmed/8132760
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