(Q34113317)

31 July 2017

0 references

A progressive autosomal recessive cataract locus maps to chromosome 9q13-q22. (English)

1 reference

31 July 2017

Héon E

1

1 reference

31 July 2017

Paterson AD

2

1 reference

31 July 2017

Fraser M

3

1 reference

31 July 2017

Billingsley G

4

1 reference

31 July 2017

Priston M

5

1 reference

31 July 2017

Balmer A

6

1 reference

31 July 2017

Schorderet DF

7

1 reference

31 July 2017

Verner A

8

1 reference

31 July 2017

Hudson TJ

9

1 reference

31 July 2017

Munier FL

10

1 reference

31 July 2017

language of work or name

English

0 references

publication date

5 February 2001

1 reference

American Journal of Human Genetics

31 July 2017

published in

1 reference

31 July 2017

volume

68

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31 July 2017

issue

3

1 reference

31 July 2017

page(s)

772-777

1 reference

A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract

31 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274489

Localization of a recessive gene for North American Indian childhood cirrhosis to chromosome region 16q22-and identification of a shared haplotype

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274489

The gamma-crystallins and human cataracts: a puzzle made clearer

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274489

Connexin46 mutations in autosomal dominant congenital cataract

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274489

Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the betaA3/A1-crystallin gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274489

Comprehensive human genetic maps: individual and sex-specific variation in recombination

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274489

The genetics of cataract: our vision becomes clearer

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274489

A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274489

Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274489

Chromosomal localization of a new mouse lens opacity gene (lop18)

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274489

Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274489

5 July 2018

Global data on blindness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274489

Dominant cataract and recessive specific-locus mutations detected in offspring of procarbazine-treated male mice

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274489

A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274489

A new locus for autosomal dominant congenital cataracts maps to chromosome 3.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274489

Global cataract blindness: the unmet challenge

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274489

Are intraocular lenses the solution to cataract blindness in Africa?

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274489

Rupture of lens cataract: a novel hereditary recessive cataract model in the mouse.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274489

28 October 2018

1 reference

12 December 2020

Mapping of new recessive cataract gene (lr2) in the mouse

1 reference

12 December 2020

Hereditary hyperferritinemia-cataract syndrome: two novel mutations in the L-ferritin iron-responsive element

1 reference

12 December 2020

Genetic and environmental factors in age-related nuclear cataracts in monozygotic and dizygotic twins

1 reference

12 December 2020

A new locus for autosomal dominant cataract on chromosome 12q13

1 reference

12 December 2020

The Lens Opacities Case-Control Study. Risk factors for cataract

1 reference

12 December 2020

Risk factors for age-related cortical, nuclear, and posterior subcapsular cataracts. The Italian-American Cataract Study Group

1 reference

12 December 2020

Genetic etiology of nuclear cataract: evidence for a major gene

1 reference

12 December 2020

Familial aggregation of lens opacities: the Framingham Eye Study and the Framingham Offspring Eye Study

1 reference

12 December 2020

Evidence for a major gene for cortical cataract

1 reference

12 December 2020

Identifiers

DOI

10.1086/318798

1 reference

31 July 2017

1 reference

31 July 2017

1 reference