Three autosomal dominant corneal dystrophies map to chromosome 5q (Q28250976)

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25 October 2019

title

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

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1

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author name string

Mathers WD

2

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25 October 2019

Rosenwasser GO

3

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25 October 2019

Holland EJ

4

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Folberg R

5

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Krachmer JH

6

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25 October 2019

Nichols BE

7

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Gorevic PD

8

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Taylor CM

9

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Streb LM

10

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language of work or name

English

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publication date

1 January 1994

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25 October 2019

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volume

6

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issue

1

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page(s)

47-51

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

25 October 2019

cites work

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

21 April 2017

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Human lysozyme gene mutations cause hereditary systemic amyloidosis

21 January 2018

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Hereditary renal amyloidosis associated with a mutant fibrinogen alpha-chain

21 January 2018

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A second-generation linkage map of the human genome

21 January 2018

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Islet amyloid, islet-amyloid polypeptide, and diabetes mellitus

21 January 2018

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

21 January 2018

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Avellino Corneal Dystrophy

21 January 2018

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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

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7 January 2021

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

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7 January 2021

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

A genetic marker for systemic amyloidosis in juvenile arthritis

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7 January 2021

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

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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

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7 January 2021

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

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7 January 2021

Atrial natriuretic peptide deposited as atrial amyloid fibrils

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7 January 2021

Dinucleotide repeat polymorphism at the D5S178 locus

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7 January 2021

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

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7 January 2021

Fast and sensitive silver staining of DNA in polyacrylamide gels

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7 January 2021

Identifiers

DOI

10.1038/NG0194-47

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25 October 2019

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