(Q24539198)

1

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M Priston

2

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D F Schorderet

3

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G D Billingsley

4

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P O Girard

5

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N Lubsen

6

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F L Munier

American Journal of Human Genetics

7

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language of work or name

English

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publication date

November 1999

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published in

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volume

65

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issue

5

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page(s)

1261-7

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cites work

Connexin46 mutations in autosomal dominant congenital cataract

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288278

Progressive juvenile-onset punctate cataracts caused by mutation of the gammaD-crystallin gene

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288278

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288278

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288278

Structural and evolutionary relationships among five members of the human gamma-crystallin gene family

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288278

A locus for a human hereditary cataract is closely linked to the gamma-crystallin gene family

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288278

Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288278

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288278

Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288278

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288278

Linkage of polymorphic congenital cataract to the gamma-crystallin gene locus on human chromosome 2q33-35

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288278

Reduced levels of gamma-crystallin transcripts during embryonic development of murine Cat2nop mutant lenses

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288278

The genetics of cataract: our vision becomes clearer

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288278

Alpha-helical, but not beta-sheet, propensity of proline is determined by peptide environment

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288278

Lens differentiation in vertebrates. A review of cellular and molecular features

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288278

A frameshift mutation in the gamma E-crystallin gene of the Elo mouse

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288278

Molecular Aspects of Lens Cell Differentiation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288278

Three murine cataract mutants (Cat2) are defective in different gamma-crystallin genes.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288278

Gene localization for aculeiform cataract, on chromosome 2q33-35.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288278

Local microdomain structure in the terminal extensions of betaA3- and betaB2-crystallins.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288278

Mutational analysis using enriched PCR and cycle sequencing

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288278

Activation of the gamma E-crystallin pseudogene in the human hereditary Coppock-like cataract

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288278

Lens crystallins and their gene families

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10521291

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Packing interactions in the eye-lens. Structural analysis, internal symmetry and lattice interactions of bovine gamma IVa-crystallin

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10521291

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Prolines and amyloidogenicity in fragments of the Alzheimer's peptide beta/A4

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10521291

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/302619

1 reference

1 reference

1 reference

PubMed publication ID

10521291

1 reference