(Q48076634)

English

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

scientific article published in January 1995

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scholarly article

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21 October 2019

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

1 reference

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21 October 2019

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Susana Balcells

3

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21 October 2019

2

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21 October 2019

4

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21 October 2019

7

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21 October 2019

author name string

Bayés M

1

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21 October 2019

Vilageliu L

5

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21 October 2019

Martínez I

6

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21 October 2019

Benítez J

8

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21 October 2019

Ramos-Arroyo MA

9

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21 October 2019

Chivelet P

10

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21 October 2019

publication date

1 January 1995

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21 October 2019

1 reference

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21 October 2019

5

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21 October 2019

228-234

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21 October 2019

3

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21 October 2019

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050307

7 January 2021

based on heuristic

inferred from DOI database lookup

Detection by PCR of the VNTR polymorphism at D4S95

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050307

7 January 2021

based on heuristic

inferred from DOI database lookup

Nonsense mutations in the human beta-globin gene affect mRNA metabolism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050307

7 January 2021

based on heuristic

inferred from DOI database lookup

Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050307

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050307

7 January 2021

based on heuristic

inferred from DOI database lookup

The human beta-subunit of rod photoreceptor cGMP phosphodiesterase: complete retinal cDNA sequence and evidence for expression in brain

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050307

7 January 2021

based on heuristic

inferred from DOI database lookup

The skipping of constitutive exons in vivo induced by nonsense mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050307

7 January 2021

based on heuristic

inferred from DOI database lookup

Deficiencies in sight with the candidate gene approach

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050307

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050307

7 January 2021

based on heuristic

inferred from DOI database lookup

A three-base-pair deletion in the peripherin–RDS gene in one form of retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050307

7 January 2021

based on heuristic

inferred from DOI database lookup

Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050307

7 January 2021

based on heuristic

inferred from DOI database lookup

CFTR nonsense mutations G542X and W1282X associated with severe reduction of CFTR mRNA in nasal epithelial cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050307

7 January 2021

based on heuristic

inferred from DOI database lookup

A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050307

7 January 2021

based on heuristic

inferred from DOI database lookup

Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050307

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050307

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050307

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050307

7 January 2021

based on heuristic

inferred from DOI database lookup

Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050307

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050307

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050307

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050307

7 January 2021

based on heuristic

inferred from DOI database lookup

A dinucleotide repeat polymorphism at the D4S127 locus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050307

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050307

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.1380050307

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7599633%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7599633%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

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