A novel mutation in exon 17 of the beta-subunit of rod phosphodiesterase in two RP sisters of a consanguineous family (Q28272966)

From Wikidata

Jump to navigation Jump to search

scientific article published in January 1996

edit

Language	Label	Description	Also known as
English	A novel mutation in exon 17 of the beta-subunit of rod phosphodiesterase in two RP sisters of a consanguineous family	scientific article published in January 1996

Statements

instance of

scholarly article

0 references

title

A novel mutation in exon 17 of the beta-subunit of rod phosphodiesterase in two RP sisters of a consanguineous family (English)

0 references

author name string

D Valverde

series ordinal

1

0 references

T Solans

series ordinal

2

0 references

D Grinberg

series ordinal

3

0 references

S Balcells

series ordinal

4

0 references

L Vilageliu

series ordinal

5

0 references

M Bayés

series ordinal

6

0 references

P Chivelet

series ordinal

7

0 references

C Besmond

series ordinal

8

0 references

M Goossens

series ordinal

9

0 references

R González-Duarte

series ordinal

10

0 references

M Baiget

series ordinal

11

0 references

language of work or name

English

0 references

publication date

January 1996

0 references

published in

Human Genetics

0 references

volume

97

0 references

issue

1

0 references

page(s)

35-8

0 references

cites work

Missense rhodopsin mutation in a family with recessive RP

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8557257

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence against involvement of recoverin in autosomal recessive retinitis pigmentosa in 42 Spanish families

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8557257

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Strategies for multilocus linkage analysis in humans

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8557257

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

PCR of a VNTR linked to mucopolysaccharidosis type I and Huntington disease

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8557257

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

cGMP binding sites on photoreceptor phosphodiesterase: role in feedback regulation of visual transduction.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8557257

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Irish setter dogs affected with rod/cone dysplasia contain a nonsense mutation in the rod cGMP phosphodiesterase beta-subunit gene

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8557257

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8557257

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Retinitis pigmentosa in Spain. The Spanish Multicentric and Multidisciplinary Group for Research into Retinitis Pigmentosa

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8557257

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A dinucleotide repeat polymorphism at the D4S127 locus

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8557257

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

(CA)n-dinucleotide repeat at the PDEB locus in 4p16.3

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8557257

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cyclic GMP Accumulation Causes Degeneration of Photoreceptor Cells: Simulation of an Inherited Disease

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8557257

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8557257

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Homozygous tandem duplication within the gene encoding the beta-subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8557257

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The search for mutations in the gene for the beta subunit of the cGMP phosphodiesterase (PDEB) in patients with autosomal recessive retinitis pigmentosa

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8557257

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Retinal degeneration in the rd mouse is caused by a defect in the beta subunit of rod cGMP-phosphodiesterase

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8557257

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1007/BF00218829

0 references

Dimensions Publication ID

1004188012

0 references

PubMed publication ID

8557257

0 references

 

Sitelinks

Wikipedia(0 entries)

edit

Wikibooks(0 entries)

edit

Wikinews(0 entries)

edit

Wikiquote(0 entries)

edit

Wikisource(0 entries)

edit

Wikiversity(0 entries)

edit

Wikivoyage(0 entries)

edit

Wiktionary(0 entries)

edit

Multilingual sites(0 entries)

edit

Retrieved from "https://www.wikidata.org/w/index.php?title=Q28272966&oldid=2175197624"