(Q79761875)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17295140%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

title

Mutation c. 1142 del G in the PRPF31 gene in a family with autosomal dominant retinitis pigmentosa (RP11) and its implications (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17295140%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17295140%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

author name string

Kurenai Taira

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17295140%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Motoya Sato

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17295140%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

publication date

1 January 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17295140%20AND%20SRC:MED&resulttype=core&format=json

Japanese Journal of Ophthalmology

25 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17295140%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

volume

51

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17295140%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17295140%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

page(s)

45-48

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17295140%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s10384-006-0394-1

25 December 2019

exact match

0 references

cites work

Bimodal expressivity in dominant retinitis pigmentosa genetically linked to chromosome 19q.

1 reference

12 December 2020

Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11) and association with a unique bimodal expressivity phenotype

1 reference

12 December 2020

Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa

1 reference

12 December 2020

A correlation between computer-predicted changes in secondary structure and the phenotype of retinal degeneration associated with mutations in peripherin/RDS.

1 reference

12 December 2020

Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19

1 reference

12 December 2020

Mutations in the pre-mRNA splicing gene, PRPF31, in Japanese families with autosomal dominant retinitis pigmentosa

1 reference

12 December 2020

Variable expressivity in a Japanese family with autosomal dominant retinitis pigmentosa closely linked to chromosome 19q

1 reference

12 December 2020

Disease mechanism for retinitis pigmentosa (RP11) caused by mutations in the splicing factor gene PRPF31

1 reference

12 December 2020

Autosomal dominant retinitis pigmentosa with apparent incomplete penetrance: a clinical, electrophysiological, psychophysical, and molecular genetic study

1 reference

12 December 2020

Autosomal dominant retinitis pigmentosa locus on chromosome 19q in a Japanese family.

1 reference

12 December 2020

Expression of PRPF31 mRNA in patients with autosomal dominant retinitis pigmentosa: a molecular clue for incomplete penetrance?

1 reference

12 December 2020

A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11)

1 reference

12 December 2020