(Q43146617)

14 November 2017

Recurrent 3-bp deletion at codon 255/256 of the rhodopsin gene in a German pedigree with autosomal dominant retinitis pigmentosa (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1550134

chromosomal deletion syndrome

7 October 2022

main subject

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1550134

7 October 2022

author name string

A. Artlich

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1550134

7 October 2022

M. Horn

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1550134

7 October 2022

B. Lorenz

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1550134

7 October 2022

S. Bhattacharga

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1550134

7 October 2022

A. Gal

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1550134

7 October 2022

language of work or name

English

0 references

publication date

1 April 1992

1 reference

full work available at URL

14 November 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1550134/pdf/?tool=EBI

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1550134

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1550134/?tool=EBI

7 October 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1550134

https://europepmc.org/articles/PMC1682649

7 October 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1550134

https://europepmc.org/articles/PMC1682649?pdf=render

7 October 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1550134

American Journal of Human Genetics

7 October 2022

published in

1 reference

14 November 2017

50

1 reference

14 November 2017

4

1 reference

14 November 2017

876-878

1 reference

Slipped-strand mispairing: a major mechanism for DNA sequence evolution

14 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682649

Molecular characterization of a spontaneously generated new allele at a VNTR locus: no exchange of flanking DNA sequence

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682649

Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682649

Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682649

A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682649

Discrimination between recurrent mutation and identity by descent: application to point mutations in exon 11 of the cystic fibrosis (CFTR) gene

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682649

Rapid detection of single base mismatches as heteroduplexes on Hydrolink gels

25 May 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1550134

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

14 November 2017

1 reference