[Molecular genetic analysis of the BIGH3 gene in lattice type I (Biber-Haab-Dimmer) and granular type II (Avellino) corneal dystrophy: is indirect mutation analysis for hot spots recommended?].
Grünauer-Kloevekorn, C
[Molecular genetic analysis of the BIGH3 gene in lattice type I (Biber-Haab-Dimmer) and granular type II (Avellino) corneal dystrophy: is indirect mutation analysis for hot spots recommended?]. [electronic resource] - Klinische Monatsblatter fur Augenheilkunde Dec 2005 - 1017-23 p. digital
Publication Type: Case Reports; English Abstract; Journal Article
0023-2165
10.1055/s-2005-858589 doi
Adult
Corneal Dystrophies, Hereditary--diagnosis
DNA Mutational Analysis
Diagnosis, Differential
Extracellular Matrix Proteins--genetics
Female
Genetic Predisposition to Disease--genetics
Genetic Testing--methods
Humans
Male
Middle Aged
Pedigree
Phenotype
Point Mutation
Risk Assessment--methods
Risk Factors
Transforming Growth Factor beta--genetics
[Molecular genetic analysis of the BIGH3 gene in lattice type I (Biber-Haab-Dimmer) and granular type II (Avellino) corneal dystrophy: is indirect mutation analysis for hot spots recommended?]. [electronic resource] - Klinische Monatsblatter fur Augenheilkunde Dec 2005 - 1017-23 p. digital
Publication Type: Case Reports; English Abstract; Journal Article
0023-2165
10.1055/s-2005-858589 doi
Adult
Corneal Dystrophies, Hereditary--diagnosis
DNA Mutational Analysis
Diagnosis, Differential
Extracellular Matrix Proteins--genetics
Female
Genetic Predisposition to Disease--genetics
Genetic Testing--methods
Humans
Male
Middle Aged
Pedigree
Phenotype
Point Mutation
Risk Assessment--methods
Risk Factors
Transforming Growth Factor beta--genetics