(Q45212102)

10 December 2017

title

Genetic analysis of four Pakistani families with achromatopsia and a novel S4 motif mutation of CNGA3. (English)

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10 December 2017

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Muhammad Arif Nadeem Saqib

1

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10 December 2017

Bilal Malik Awan

2

1 reference

10 December 2017

Mehwish Sarfraz

3

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10 December 2017

Muhammad Nasim Khan

4

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10 December 2017

Sajid Rashid

5

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10 December 2017

Muhammad Ansar

6

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10 December 2017

publication date

13 September 2011

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Japanese Journal of Ophthalmology

10 December 2017

published in

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10 December 2017

volume

55

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10 December 2017

issue

6

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10 December 2017

page(s)

676-680

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Genetic etiology and clinical consequences of complete and incomplete achromatopsia.

10 December 2017

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS10384-011-0070-Y

Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10384-011-0070-Y

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.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10384-011-0070-Y

Functional analysis of human CNGA3 mutations associated with colour blindness suggests impaired surface expression of channel mutants A3(R427C) and A3(R563C).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10384-011-0070-Y

Compound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10384-011-0070-Y

Potassium channel ontogeny

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10384-011-0070-Y

Cellular processing of cone photoreceptor cyclic GMP-gated ion channels: a role for the S4 structural motif

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10384-011-0070-Y

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10384-011-0070-Y

Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10384-011-0070-Y

Exploring the extremes of sequence/structure space with ensemble fold recognition in the program Phyre

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10384-011-0070-Y

MolProbity: all-atom contacts and structure validation for proteins and nucleic acids

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10384-011-0070-Y

Blocks+: a non-redundant database of protein alignment blocks derived from multiple compilations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10384-011-0070-Y

Functional consequences of progressive cone dystrophy-associated mutations in the human cone photoreceptor cyclic nucleotide-gated channel CNGA3 subunit

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10384-011-0070-Y

Functional analysis of rod monochromacy-associated missense mutations in the CNGA3 subunit of the cone photoreceptor cGMP-gated channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10384-011-0070-Y

Achromatopsia caused by novel mutations in both CNGA3 and CNGB3

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10384-011-0070-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10384-011-0070-Y

A superfamily of ion channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10384-011-0070-Y

CNGA3 mutations in two United Arab Emirates families with achromatopsia.

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21912902

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia.

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21912902

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Clinical and genetic features of Hungarian achromatopsia patients

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21912902

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S10384-011-0070-Y

1 reference

Dimensions Publication ID

10 December 2017

1004664792

0 references

1 reference