Characterization of a mutation in the zona pellucida module of Endoglin that causes Hereditary Hemorrhagic Telangiectasia-Reference-Cited by-同舟云学术

Characterization of a mutation in the zona pellucida module of Endoglin that causes Hereditary Hemorrhagic Telangiectasia

Published:2019-05 Issue: Volume:696 Page:33-39
ISSN:0378-1119
Container-title:Gene
language:en
Short-container-title:Gene

Author:

Ruiz-Llorente Lidia,Chiapparino Elisa,Plumitallo Sara,Danesino Cesare,Bayrak-Toydemir Pinar,Pagella Fabio,Manfredi Guido,Bernabeu Carmelo,Jovine Luca,Olivieri Carla

Funder

Ministerio de Economía, Industria y Competitividad

Consejo Superior de Investigaciones Científicas

Centro de Investigacion Biomedica en Red de Enfermedades Raras

Center for Innovative Medicine

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference34 articles.

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2. Structural and functional insights into endoglin ligand recognition and binding;Alt;PLoS One,2012

3. Hereditary hemorrhagic telangiectasia: an overview of diagnosis and management in the molecular era for clinicians;Bayrak-Toydemir;Genet. Med.,2004

4. Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations;Bayrak-Toydemir;Am. J. Med. Genet. A,2006

5. Structure of zona pellucida module proteins;Bokhove;Curr. Top. Dev. Biol.,2018

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