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Missense mutations in TNXB as a cause of VUR

Published byἝκτωρ Λιακόπουλος Modified over 6 years ago

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Presentation on theme: "Missense mutations in TNXB as a cause of VUR"— Presentation transcript:

1 Missense mutations in TNXB as a cause of VUR
Missense mutations in TNXB as a cause of VUR. (A) Exons and protein domains of TNXB. (B and C) Missense heterozygous mutation exon C>T T3257I found in the index family with hereditary VUR; this mutation is conserved in evolution. Missense mutations in TNXB as a cause of VUR. (A) Exons and protein domains of TNXB. (B and C) Missense heterozygous mutation exon C>T T3257I found in the index family with hereditary VUR; this mutation is conserved in evolution. (D and E) Another kindred with VUR was found to have G1331R mutation in exon 10; this mutation is also conserved in evolution. Rasheed A. Gbadegesin et al. JASN 2013;24: ©2013 by American Society of Nephrology

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