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Journal article

A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye

DY Nishimura, CC Searby, WL Alward, D Walton, JE Craig, DA Mackey, K Kawase, AB Kanis, SR Patil, EM Stone, VC Sheffield

American Journal of Human Genetics | CELL PRESS | Published : 2001

DOI: 10.1086/318183

University of Melbourne Researchers

Jamie Craig's Profile Picture
Jamie Craig Author Ophthalmology Eye and Ear Hospital

David Mackey's Profile Picture
David Mackey Author Ophthalmology Eye and Ear Hospital

Grants

Awarded by NEI NIH HHS


Awarded by NATIONAL EYE INSTITUTE


Citation metrics

153Web of Science
166Scopus
158Dimensions

Keywords

6p25
Dna-Binding Proteins
Abnormalities
Eye Abnormalities
Transcription Factor Gene
Life Sciences & Biomedicine
Physical Chromosome Mapping
Molecular Sequence Data
Fkhl7
Mutation
Iridogoniodysgenesis
Anomaly Maps
Transcription Factors
Forkhead Transcription Factors
Primary Congenital Glaucoma
Science & Technology
Dna Mutational Analysis
Dna
Rieger Syndrome
Genetics & Heredity
Chromosomes, Human, Pair 6
Gene Dosage
Identification
Locus
Humans
Gene Duplication
Anterior Chamber
Chromosome Aberrations

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