(Q34152562)

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A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family from a rural isolate.

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Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12357335%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family from a rural isolate (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12357335%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

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José Luis Santos

3

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13 December 2019

author name string

Cecilia V Rojas

1

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13 December 2019

Lorena Santa María

2

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13 December 2019

Fanny Cortés

4

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13 December 2019

María Angélica Alliende

5

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13 December 2019

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1 October 2002

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13 December 2019

European Journal of Human Genetics

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13 December 2019

10

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13 December 2019

10

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13 December 2019

638-642

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13 December 2019

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200856

0 references

Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200856

21 January 2018

Human rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200856

21 January 2018

Homozygosity mapping of the Achromatopsia locus in the Pingelapese

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200856

21 January 2018

Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200856

21 January 2018

Genetic basis of total colourblindness among the Pingelapese islanders

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200856

21 January 2018

Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200856

21 January 2018

CNGA3 mutations in hereditary cone photoreceptor disorders

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200856

21 January 2018

Strategies for multilocus linkage analysis in humans

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200856

21 January 2018

A locus for autosomal recessive achromatopsia on human chromosome 8q

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200856

21 January 2018

Fast and sensitive silver staining of DNA in polyacrylamide gels

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200856

7 January 2021

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