(Q43104752)

14 November 2017

Homogeneity of kerato-epithelin codon 124 mutations in Japanese patients with either of two types of corneal stromal dystrophy (English)

1 reference

14 November 2017

Mashima Y

1

1 reference

14 November 2017

Imamura Y

2

1 reference

14 November 2017

Konishi M

3

1 reference

14 November 2017

Nagasawa A

4

1 reference

14 November 2017

Yamada M

5

1 reference

14 November 2017

Oguchi Y

6

1 reference

14 November 2017

Kudoh J

7

1 reference

14 November 2017

Shimizu N

8

1 reference

14 November 2017

language of work or name

English

0 references

publication date

1 December 1997

1 reference

American Journal of Human Genetics

14 November 2017

1 reference

14 November 2017

61

1 reference

14 November 2017

6

1 reference

14 November 2017

1448-1450

1 reference

Granular-lattice (Avellino) corneal dystrophy in Japanese patients.

14 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716082

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716082

Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716082

Mapping of Reis-Bücklers' corneal dystrophy to chromosome 5q.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716082

Three autosomal dominant corneal dystrophies map to chromosome 5q

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716082

Genetic refinement of the chromosome 5q lattice corneal dystrophy type I locus to within a 2 cM interval

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716082

A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716082

Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716082

Histochemistry of corneal granular dystrophy

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716082

Clinically atypical granular corneal dystrophy with pathologic features of lattice-like amyloid deposits. A study of these families

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716082

Superficial Juvenile Granular Dystrophy

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716082

Unusual Superficial Variant of Granular Dystrophy of the Cornea

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716082

Granular dystrophy of the cornea. Characteristic electron microscopic lesion

25 May 2018

1 reference

12 December 2020

Superficial granular corneal dystrophy with amyloid deposits

1 reference

12 December 2020

Avellino Corneal Dystrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Delineation of a 1-cM region on distal 5q containing the locus for corneal dystrophies Groenouw type I and lattice type I and exclusion of the candidate genes SPARC and LOX

1 reference

12 December 2020

Identifiers

DOI

10.1086/301649

1 reference

14 November 2017

1 reference

14 November 2017

1 reference