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.

Míreanna Comhchosúla

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• Structural and functional consequences of the substitution of glycine 65 by arginine in the N-lobe of human transferrin
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• The First COL4A5 Exon 41A Glycine Substitution in a Family With Alport Syndrome
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• A glycine substitution in the collagenous domain of Col4a3 in mice recapitulates late onset Alport syndrome
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  Foilsithe: (2020)