A founder mutation underlies a severe form of phosphoglutamase 3 (PGM3) deficiency in Tunisian patients.

Leila Ben-Khemis,Najla Mekki,Imen Ben-Mustapha,Karen Rouault,Fethi Mellouli,Monia Khemiri,Mohamed Bejaoui,Leila Essaddam, Saayda Ben-Becher,Lamia Boughamoura,Saida Hassayoun,Meriem Ben-Ali,Mohamed-Ridha Barbouche

Molecular Immunology（2017）

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摘要

•Identification of a recurrent mutation in PGM3 gene in Tunisian patients.•Glu340 del mutation in PGM3 gene is associated with a severe clinical phenotype.•The first founder mutation in PGM3 gene is herein reported.

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关键词

PGM3 deficiency,Congenital disorder of glycosylation,Glu340del founder mutation,Consanguinity

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