Arg555Gln Mutation of TGFBI Gene in Geographical-Type Reis—Bücklers Corneal Dystrophy in a Chinese Family

Journal of International Medical Research - United Kingdom
doi 10.1177/147323001204000335
Full Text
Abstract

Available in full text

Date
Authors
Publisher

SAGE Publications

Related search

A Possible Novel TGFBI Mutation Ser591Phe in a Finnish Family With Lattice Corneal Dystrophy

Acta Ophthalmologica
MedicineOphthalmology
2018English

Unique TGFBI Protein in Lattice Corneal Dystrophy

Investigative Ophthalmology and Visual Science
Molecular NeuroscienceOphthalmologySensory SystemsCellular
2011English

A Novel Dominant Mutation in the SOX10 Gene in a Chinese Family With Waardenburg Syndrome Type�II

Molecular Medicine Reports
OncologyGeneticsMolecular BiologyBiochemistryCancer ResearchMolecular Medicine
2019English

Doyne Honeycomb Retinal Dystrophy/Malattia Leventinese Induced by EFEMP1 Mutation in a Chinese Family

BMC Ophthalmology
MedicineOphthalmology
2018English

Phenotype‐genotype Correlation of p.R124S Mutation in Granular Type 1 Corneal Dystrophy of Tunisian Origin

Acta Ophthalmologica
MedicineOphthalmology
2018English

Lattice Corneal Dystrophy Type I

2020English

a Novel HSF4 Gene Mutation Causes Autosomal-Dominant Cataracts in a Chinese Family

G3: Genes, Genomes, Genetics
MedicineGeneticsMolecular Biology
2014English

Identification of a Novel Frameshift Mutation in PITX2 Gene in a Chinese Family With Axenfeld-Rieger Syndrome

Journal of Zhejiang University: Science B
GeneticsPharmacologyMolecular BiologyBiochemistryVeterinaryMedicineToxicologyPharmaceutics
2014English

A Novel Mutation of GARS in a Chinese Family With Distal Hereditary Motor Neuropathy Type V

Frontiers in Neurology
Neurology
2018English

Amanote Research

Note-taking for researchers

Follow Amanote

© 2024 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy