Literature DB >> 30601195

Novel mutation in MASP1 gene in a new family with 3MC syndrome.

Muserref Basdemirci1, Askin Sen2, Serdar Ceylaner3.   

Abstract

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Year:  2019        PMID: 30601195     DOI: 10.1097/MCD.0000000000000256

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN: 0962-8827            Impact factor:   0.816


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  3 in total

1.  Further Expansion of the Mutational Spectrum of 3MC Syndrome: A Novel MASP1 Pathogenic Variant in a Male Patient.

Authors:  Nihat Bugra Agaoglu; Ozlem Akgun Dogan
Journal:  Mol Syndromol       Date:  2021-08-31

2.  Therapeutic Targeting of the Complement System: From Rare Diseases to Pandemics.

Authors:  Peter Garred; Andrea J Tenner; Tom E Mollnes
Journal:  Pharmacol Rev       Date:  2021-04       Impact factor: 25.468

Review 3.  Association of Polymorphisms of MASP1/3, COLEC10, and COLEC11 Genes with 3MC Syndrome.

Authors:  Gabriela Gajek; Anna S Świerzko; Maciej Cedzyński
Journal:  Int J Mol Sci       Date:  2020-07-31       Impact factor: 5.923

  3 in total

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