(Q28250976)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8136834 AND SRC:MED&resulttype=core&format=json

25 October 2019

title

Three autosomal dominant corneal dystrophies map to chromosome 5q (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8136834 AND SRC:MED&resulttype=core&format=json

25 October 2019

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8136834 AND SRC:MED&resulttype=core&format=json

25 October 2019

author name string

Mathers WD

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8136834 AND SRC:MED&resulttype=core&format=json

25 October 2019

Rosenwasser GO

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8136834 AND SRC:MED&resulttype=core&format=json

25 October 2019

Holland EJ

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8136834 AND SRC:MED&resulttype=core&format=json

25 October 2019

Folberg R

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8136834 AND SRC:MED&resulttype=core&format=json

25 October 2019

Krachmer JH

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8136834 AND SRC:MED&resulttype=core&format=json

25 October 2019

Nichols BE

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8136834 AND SRC:MED&resulttype=core&format=json

25 October 2019

Gorevic PD

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8136834 AND SRC:MED&resulttype=core&format=json

25 October 2019

Taylor CM

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8136834 AND SRC:MED&resulttype=core&format=json

25 October 2019

Streb LM

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8136834 AND SRC:MED&resulttype=core&format=json

25 October 2019

language of work or name

English

0 references

publication date

1 January 1994

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8136834 AND SRC:MED&resulttype=core&format=json

25 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8136834 AND SRC:MED&resulttype=core&format=json

25 October 2019

volume

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8136834 AND SRC:MED&resulttype=core&format=json

25 October 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8136834 AND SRC:MED&resulttype=core&format=json

25 October 2019

page(s)

47-51

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8136834 AND SRC:MED&resulttype=core&format=json

Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease

25 October 2019

cites work

1 reference

Mutant prion proteins in Gerstmann-Sträussler-Scheinker disease with neurofibrillary tangles

21 April 2017

1 reference

Mutation of the prion protein in Libyan Jews with Creutzfeldt-Jakob disease

21 January 2018

1 reference

Fatal familial insomnia, a prion disease with a mutation at codon 178 of the prion protein gene

21 January 2018

1 reference

Alzheimer patients: preamyloid deposits are immunoreactive with antibodies to extracellular domains of the amyloid precursor protein

21 January 2018

1 reference

Human lysozyme gene mutations cause hereditary systemic amyloidosis

21 January 2018

1 reference

Hereditary renal amyloidosis associated with a mutant fibrinogen alpha-chain

21 January 2018

1 reference

A second-generation linkage map of the human genome

21 January 2018

1 reference

Islet amyloid, islet-amyloid polypeptide, and diabetes mellitus

21 January 2018

1 reference

Gelsolin–derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187

21 January 2018

1 reference

Avellino Corneal Dystrophy

21 January 2018

1 reference

Histopathologic differentiation of granular, macular and lattice dystrophies of the cornea.

21 January 2018

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

1 reference

7 January 2021

Primary structure of an amyloid prealbumin and its plasma precursor in a heredofamilial polyneuropathy of Swedish origin

1 reference

7 January 2021

A seroepidemiologic survey of the prevalence of herpes simplex virus type 2 infection in the United States

1 reference

7 January 2021

Localization of human SAA gene(s) to chromosome 11 and detection of DNA polymorphisms

1 reference

7 January 2021

A genetic marker for systemic amyloidosis in juvenile arthritis

1 reference

7 January 2021

A mutation in apolipoprotein A-I in the Iowa type of familial amyloidotic polyneuropathy

1 reference

7 January 2021

Hereditary cerebral amyloid angiopathy: the amyloid fibrils contain a protein which is a variant of cystatin C, an inhibitor of lysosomal cysteine proteases

1 reference

7 January 2021

Polymerization of intact beta 2-microglobulin in tissue causes amyloidosis in patients on chronic hemodialysis

1 reference

7 January 2021

Atrial natriuretic peptide deposited as atrial amyloid fibrils

1 reference

7 January 2021

Dinucleotide repeat polymorphism at the D5S178 locus

1 reference

7 January 2021

A simple and efficient non-organic procedure for the isolation of genomic DNA from blood

1 reference

7 January 2021

Fast and sensitive silver staining of DNA in polyacrylamide gels

1 reference

7 January 2021

Identifiers

DOI

10.1038/NG0194-47

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8136834 AND SRC:MED&resulttype=core&format=json

25 October 2019

1 reference