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Publications by A J Hardcastle
Severe Meesmann’s Epithelial Corneal Dystrophy Phenotype Due to a Missense Mutation in the Helix-Initiation Motif of Keratin 12
Eye
Medicine
Arts
Sensory Systems
Ophthalmology
Humanities
BIGH3 Mutation in a Bangladeshi Family With a Variable Phenotype of LCDI
Eye
Medicine
Arts
Sensory Systems
Ophthalmology
Humanities
Related publications
siRNA Silencing of the Mutant Keratin 12 Allele in Corneal Limbal Epithelial Cells Grown From Patients With Meesmann's Epithelial Corneal Dystrophy
Investigative Ophthalmology and Visual Science
Molecular Neuroscience
Ophthalmology
Sensory Systems
Cellular
Phenotype‐genotype Correlation of p.R124S Mutation in Granular Type 1 Corneal Dystrophy of Tunisian Origin
Acta Ophthalmologica
Medicine
Ophthalmology
A First Missense Mutation in the Delta Sarcoglycan Gene Associated With a Severe Phenotype and Frequency of Limb-Girdle Muscular Dystrophy Type 2F (LGMD2F) in Brazilian Sarcoglycanopathies.
Journal of Medical Genetics
Genetics
A Missense Mutation in the Type II Hair Keratin hHb3 Is Associated With Monilethrix
Journal of Medical Genetics
Genetics
Progressive Ataxia Due to a Missense Mutation in a Calcium-Channel Gene
American Journal of Human Genetics
Genetics
Hypopyon Keratitis in Corneal Epithelial Basement Membrane Dystrophy
Eye
Medicine
Arts
Sensory Systems
Ophthalmology
Humanities
Harderoporphyria Due to Homozygosity for Coproporphyrinogen Oxidase Missense Mutation H327R
Journal of Inherited Metabolic Disease
Genetics
Prevalence of Subtypes of Epithelial and Sub-Epithelial Corneal Dystrophy in Punjab-Pakistan
Pure and Applied Biology
A Missense Cystic Fibrosis Transmembrane Conductance Regulator Mutation With Variable Phenotype
Pediatrics
Child Health
Pediatrics
Perinatology
