Literature DB >> 31469168

Novel mutations in DPM3 cause dystroglycanopathy with central nervous system involvement.

Jun Fu1, Mingming Ma1, Jia Song1, Mi Pang1, Liang Yang1, Gang Li1, Jiewen Zhang1.   

Abstract

Entities:  

Year:  2019        PMID： 31469168     DOI： 10.1111/cge.13634

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  1 in total

1.  Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation.

Authors:  Silvia Radenkovic; Taylor Fitzpatrick-Schmidt; Seul Kee Byeon; Anil K Madugundu; Mayank Saraswat; Angie Lichty; Sunnie Y W Wong; Stephen McGee; Katharine Kubiak; Anna Ligezka; Wasantha Ranatunga; Yuebo Zhang; Tim Wood; Michael J Friez; Katie Clarkson; Akhilesh Pandey; Julie R Jones; Eva Morava
Journal:  Mol Genet Metab       Date:  2020-10-17       Impact factor: 4.797
  1 in total

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