Mutation update: TGFBI pathogenic and likely pathogenic variants in corneal dystrophies-Reference-Cited by-同舟云学术

Mutation update: TGFBI pathogenic and likely pathogenic variants in corneal dystrophies

Published:2019-03-28 Issue:6 Volume:40 Page:675-693
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Kheir Valeria¹²,Cortés‐González Vianney³,Zenteno Juan C.⁴⁵^ORCID,Schorderet Daniel F.¹²⁶^ORCID

Affiliation:

1. Institute for Research in OphthalmologySion Switzerland

2. Faculty of Biology and Medicine, University of LausanneLausanne Switzerland

3. Department of GeneticsHospital “Dr. Luis Sanchez Bulnes”, Asociación Para Evitar la Ceguera en MéxicoMexico City Mexico

4. Department of GeneticsInstitute of Ophthalmology “Conde de Valenciana”Mexico City Mexico

5. Department of BiochemistryFaculty of Medicine, UNAMMexico City Mexico

6. Faculty of Life Sciences, Ecole Polytechnique Fédérale de LausanneLausanne Switzerland

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23737

Reference167 articles.

1. Atypical asymmetric lattice corneal dystrophy associated with a novel homozygous mutation (Val624Met) in the TGFBI gene;Afshari N. A.;Molecular Vision,2008

2. Survey of patients with granular, lattice, avellino, and Reis‐Bucklers corneal dystrophies for mutations in the BIGH3 and gelsolin genes;Afshari N. A.;Archives of Ophthalmology,2001

3. Granular Dystrophy of the Cornea

4. Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI gene

5. Unilateral lattice corneal dystrophy associated with the novel His572del mutation in the TGFBI gene;Aldave A. J.;Molecular Vision,2006

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