(Q34607866)

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Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14.

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scholarly article

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Europe PubMed Central

PubMed publication ID

3 August 2017

Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14. (English)

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

James R. Lupski

3

object named as

James R Lupski

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

author name string

Wojciech Wiszniewski

1

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Richard Alan Lewis

2

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

publication date

31 January 2007

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

121

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Europe PubMed Central

PubMed publication ID

3 August 2017

3-4

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

433-439

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

https://scigraph.springernature.com/pub.10.1007/s00439-006-0314-y

0 references

Molecular basis of an inherited form of incomplete achromatopsia.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17265047

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Stable inheritance of the CMT1A DNA duplication in two patients with CMT1 and NF1

1 reference

https://pubmed.ncbi.nlm.nih.gov/17265047

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Triallelic inheritance: a bridge between Mendelian and multifactorial traits

1 reference

https://pubmed.ncbi.nlm.nih.gov/17265047

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy

1 reference

https://pubmed.ncbi.nlm.nih.gov/17265047

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Achromatopsia-associated mutation in the human cone photoreceptor cyclic nucleotide-gated channel CNGB3 subunit alters the ligand sensitivity and pore properties of heteromeric channels

1 reference

https://pubmed.ncbi.nlm.nih.gov/17265047

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/17265047

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

CNGA3 mutations in hereditary cone photoreceptor disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/17265047

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17265047

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Progressive cone dystrophy associated with mutation in CNGB3.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17265047

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic heterogeneity among blue-cone monochromats

1 reference

https://pubmed.ncbi.nlm.nih.gov/17265047

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/17265047

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17265047

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder

1 reference

https://pubmed.ncbi.nlm.nih.gov/17265047

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Achromatopsia caused by novel mutations in both CNGA3 and CNGB3

1 reference

https://pubmed.ncbi.nlm.nih.gov/17265047

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/17265047

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Search for imprinted regions on chromosome 14: comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion

1 reference

https://pubmed.ncbi.nlm.nih.gov/17265047

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia

1 reference

https://pubmed.ncbi.nlm.nih.gov/17265047

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic basis of total colourblindness among the Pingelapese islanders

1 reference

https://pubmed.ncbi.nlm.nih.gov/17265047

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus

1 reference

https://pubmed.ncbi.nlm.nih.gov/17265047

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Double trouble in hereditary neuropathy: concomitant mutations in the PMP-22 gene and another gene produce novel phenotypes

1 reference

https://pubmed.ncbi.nlm.nih.gov/17265047

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia

1 reference

https://pubmed.ncbi.nlm.nih.gov/17265047

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00439-006-0314-Y

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

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