(Q34296603)

1 August 2017

title

A six-generation family with autosomal dominant retinitis pigmentosa and a rhodopsin gene mutation (arginine-135-leucine) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1484692

1 October 2022

1 reference

Andréasson S

1

1 reference

1 August 2017

S. Andréasson

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1484692

1 October 2022

B. Ehinger

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1484692

1 October 2022

M. Abrahamson

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1484692

1 October 2022

G. Fex

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1484692

1 October 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1484692

1 October 2022

publication date

1 September 1992

1 reference

Ophthalmic Paediatrics and Genetics

1 August 2017

published in

1 reference

1 August 2017

volume

13

1 reference

1 August 2017

issue

3

1 reference

1 August 2017

page(s)

145-153

1 reference

A point mutation of the rhodopsin gene in one form of retinitis pigmentosa

1 August 2017

cites work

1 reference

https://api.crossref.org/works/10.3109%2F13816819209046483

Rhodopsin mutations in autosomal dominant retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816819209046483

Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816819209046483

Autosomal dominant sectoral retinitis pigmentosa. Two families with transversion mutation in codon 23 of rhodopsin

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816819209046483

Ocular findings associated with rhodopsin gene codon 17 and codon 182 transition mutations in dominant retinitis pigmentosa.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816819209046483

A simple salting out procedure for extracting DNA from human nucleated cells

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816819209046483

[21] Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816819209046483

Effects of primer-template mismatches on the polymerase chain reaction: human immunodeficiency virus type 1 model studies

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816819209046483

Isolation and nucleotide sequence of the gene encoding human rhodopsin

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816819209046483

Regional Distribution of Retinal Degeneration in Patients with the Proline to Histidine Mutation in Codon 23 of the Rhodopsion Gene

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816819209046483

10.3109/13816819209046483

21 January 2018

Identifiers

DOI

1 reference

1 August 2017

1 reference