Substitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments.

A large kindred with adult-type X-linked Alport syndrome was studied with regard to a defect in the recently described COL4A5 collagen gene. Southern blot analysis with COL4A5 cDNA probes showed loss of a MspI restriction site. Direct sequencing of cDNA amplified from lymphoblast mRNA demonstrated a...

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Detalhes bibliográficos
Main Authors: Knebelmann, B, Deschenes, G, Gros, F, Hors, M C, Grünfeld, J P, Zhou, J, Tryggvason, K, Gubler, M C, Antignac, C
Formato: Artigo
Idioma:Inglês
Publicado em: 1992
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682875/
https://ncbi.nlm.nih.gov/pubmed/1376965
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