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Clinical features of a Japanese family with autosomal dominant retinitis pigmentosa associated with a Thr494Met mutation in the HPRP3 gene

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Clinical features of a Japanese family with autosomal dominant retinitis pigmentosa associated with a Thr494Met mutation in the HPRP3 gene (English)

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1 reference

Yuko Wada

1

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Toshitaka Itabashi

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2

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Hajime Sato

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3

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Makoto Tamai

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4

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language of work or name

English

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publication date

November 2004

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published in

Graefe's Archive for Clinical and Experimental Ophthalmology

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volume

242

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issue

11

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page(s)

956-61

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cites work

Oguchi disease: phenotypic characteristics of patients with the frequent 1147delA mutation in the arrestin gene

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15085354

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Central region of the human splicing factor Hprp3p interacts with Hprp4p

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15085354

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15085354

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation of human retinal fascin gene (FSCN2) causes autosomal dominant retinitis pigmentosa

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15085354

retrieved

12 December 2020

based on heuristic

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Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15085354

retrieved

12 December 2020

based on heuristic

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Identification and characterization of human genes encoding Hprp3p and Hprp4p, interacting components of the spliceosome

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15085354

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15085354

retrieved

12 December 2020

based on heuristic

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Standard for clinical electroretinography. International Standardization Committee

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15085354

retrieved

12 December 2020

based on heuristic

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

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15085354

retrieved

12 December 2020

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10.1007/S00417-004-0923-X

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https://api.fatcat.wiki/v0/release/5mejggwlg5crlbegldcx6i2iw4

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30 July 2022

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Dimensions Publication ID

1004500082

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Fatcat ID

release_5mejggwlg5crlbegldcx6i2iw4

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https://api.fatcat.wiki/v0/release/5mejggwlg5crlbegldcx6i2iw4

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30 July 2022

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mapped directly with Wikidata item

PubMed publication ID

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https://api.fatcat.wiki/v0/release/5mejggwlg5crlbegldcx6i2iw4

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30 July 2022

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ResearchGate publication ID

8618676

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(Q28256664)

Clinical features of a Japanese family with autosomal dominant retinitis pigmentosa associated with a Thr494Met mutation in the HPRP3 gene

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