(Q28207877)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1302019

10 September 2022

1

Stone EM

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1302019

10 September 2022

author name string

E M Stone

1

0 references

B E Nichols

2

0 references

L M Streb

3

0 references

A E Kimura

4

0 references

V C Sheffield

5

0 references

Nichols BE

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1302019

10 September 2022

Streb LM

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1302019

10 September 2022

Kimura AE

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1302019

10 September 2022

Sheffield VC

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1302019

A three-base-pair deletion in the peripherin–RDS gene in one form of retinitis pigmentosa

10 September 2022

language of work or name

English

0 references

publication date

July 1992

0 references

published in

Nature Genetics

0 references

volume

1

0 references

issue

4

0 references

page(s)

246-50

0 references

cites work

1 reference

https://api.crossref.org/works/10.1038/NG0792-246

Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa

21 April 2017

1 reference

https://api.crossref.org/works/10.1038/NG0792-246

Über familiäre, progressive Degeneration in der Maculagegend des Auges

21 April 2017

1 reference

https://api.crossref.org/works/10.1038%2FNG0792-246

Congenital deaf-mutism in a family sith dystrophia reticularis laminae pigmentosae retinae (Sjögren)

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0792-246

7 January 2021

Butterfly--Shaped Pigment Dystrophy of the Fovea

1 reference

https://api.crossref.org/works/10.1038%2FNG0792-246

7 January 2021

Dominantly inherited macular dystrophy with flecks (Stargardt)

1 reference

https://api.crossref.org/works/10.1038%2FNG0792-246

7 January 2021

New clinical test of retinal function based upon the standing potential of the eye.

1 reference

https://api.crossref.org/works/10.1038%2FNG0792-246

7 January 2021

Replication pattern of the X chromosomes in three X/autosomal translocations.

1 reference

https://api.crossref.org/works/10.1038%2FNG0792-246

7 January 2021

Ring chromosome 14 in a mentally retarded girl.

1 reference

https://api.crossref.org/works/10.1038%2FNG0792-246

7 January 2021

Retinal/macular pigmentation in conjunction with ring 14 chromosome

1 reference

https://api.crossref.org/works/10.1038%2FNG0792-246

7 January 2021

Flecked retina associated with ring 17 chromosome

1 reference

https://api.crossref.org/works/10.1038%2FNG0792-246

7 January 2021

Atypical vitelliform macular dystrophy in a 5-generation family

1 reference

https://api.crossref.org/works/10.1038%2FNG0792-246

7 January 2021

Histopathology of Best's macular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FNG0792-246

7 January 2021

A histopathologic study of Best's macular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FNG0792-246

7 January 2021

Histopathologic Findings in Best's Vitelliform Macular Dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FNG0792-246

7 January 2021

Dinucleotide repeat polymorphism at the D11S527 locus

1 reference

https://api.crossref.org/works/10.1038%2FNG0792-246

7 January 2021

Doyne's honeycomb retinal degeneration. Clinical and genetic features

1 reference

https://api.crossref.org/works/10.1038%2FNG0792-246

7 January 2021

A fundus dystrophy with unusual features

1 reference

https://api.crossref.org/works/10.1038%2FNG0792-246

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0792-246

7 January 2021

Dinucleotide repeat polymorphism at the human tyrosinase gene

1 reference

https://api.crossref.org/works/10.1038%2FNG0792-246

7 January 2021

Dinucleotide repeat polymorphism at the D11S35 locus

1 reference

https://api.crossref.org/works/10.1038%2FNG0792-246

7 January 2021

Detection and characterization of additional DNA polymorphisms in the dopamine D2 receptor gene

1 reference

https://api.crossref.org/works/10.1038%2FNG0792-246

7 January 2021

Identifiers

DOI

10.1038/NG0792-246

0 references