(Q28140672)

English

Heterogeneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene-lessons for corneal amyloidogenesis

scientific article (publication date: 1999)

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scholarly article

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Heterogeneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene-lessons for corneal amyloidogenesis (English)

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1 reference

based on heuristic

inferred from title

corneal dystrophy

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based on heuristic

inferred from title

author name string

H S Stewart

1

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A E Ridgway

2

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M J Dixon

3

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R Bonshek

4

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R Parveen

5

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G Black

6

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language of work or name

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publication date

1999

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14

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2

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126-32

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Phototherapeutic keratectomy in the treatment of Avellino dystrophy

1 reference

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21 January 2018

Folding-related dimerization of human cystatin C.

1 reference

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21 January 2018

Increased expression of fibrillin-1 in human corneas with bullous keratopathy.

1 reference

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21 January 2018

Mutation hot spots in 5q31-linked corneal dystrophies

1 reference

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21 January 2018

Severe form of juvenile corneal stromal dystrophy with homozygous R124H mutation in the keratoepithelin gene in five Japanese patients

1 reference

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21 January 2018

Kerato-epithelin mutations in four 5q31-linked corneal dystrophies

1 reference

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21 January 2018

Two distinct kerato-epithelin mutations in Reis-Bücklers corneal dystrophy

1 reference

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21 January 2018

A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy

1 reference

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21 January 2018

A kerato-epithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIA

1 reference

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21 January 2018

The Relationship Between Granular, Lattice Type 1, and Avellino Corneal Dystrophies

1 reference

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21 January 2018

Clinically Atypical Granular Corneal Dystrophy with Pathologic Features of Lattice-like Amyloid Deposits

1 reference

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21 January 2018

The classic form of granular corneal dystrophy associated with R555W mutation in the BIGH3 gene is rare in Japanese patients

1 reference

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21 January 2018

Inter-familial variability and intra-familial similarities of granular corneal dystrophy Groenouw type I with respect to biomicroscopical appearance and symptomatology

1 reference

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21 January 2018

Granular corneal dystrophy Groenouw type I. A report of a probable homozygous patient

1 reference

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21 January 2018

Phenotypic variation in combined granular-lattice (Avellino) corneal dystrophy

1 reference

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21 January 2018

Identifiers

10.1002/(SICI)1098-1004(1999)14:2<126::AID-HUMU4>3.0.CO;2-W

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