(Q43935848)

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Systematic genetic study of Alzheimer disease in Latin America: mutation frequencies of the amyloid beta precursor protein and presenilin genes in Colombia.

scientific article published in October 2001

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scholarly article

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11568920%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

Systematic genetic study of Alzheimer disease in Latin America: mutation frequencies of the amyloid beta precursor protein and presenilin genes in Colombia (English)

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11568920%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

Alzheimer's disease

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Martha Lucia Serrano

5

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11 November 2019

author name string

D Arango

1

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11 November 2019

M Cruts

2

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11 November 2019

O Torres

3

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11 November 2019

H Backhovens

4

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11 November 2019

E Villareal

6

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11 November 2019

P Montañes

7

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11 November 2019

D Matallana

8

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11 November 2019

C Cano

9

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11 November 2019

C Van Broeckhoven

10

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11 November 2019

M Jacquier

11

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11 November 2019

publication date

1 October 2001

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11 November 2019

American Journal of Medical Genetics Part A

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11 November 2019

103

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11 November 2019

2

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11 November 2019

138-143

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11 November 2019

Improved direct sequencing of Alzheimer's amyloid precursor protein (APP) exons 16 and 17.

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820011001%29103%3A2%3C138%3A%3AAID-AJMG1529%3E3.0.CO%3B2-8

21 January 2018

A novel silent variant at codon 711 and a variant at codon 708 of the APP sequence detected in Spanish Alzheimer and control cases.

1 reference

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21 January 2018

The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families

1 reference

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21 January 2018

A novel mutation in the beta-protein coding region of the amyloid beta-protein precursor (APP) gene.

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820011001%29103%3A2%3C138%3A%3AAID-AJMG1529%3E3.0.CO%3B2-8

21 January 2018

Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum

1 reference

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21 January 2018

A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1.

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820011001%29103%3A2%3C138%3A%3AAID-AJMG1529%3E3.0.CO%3B2-8

21 January 2018

Molecular genetic analysis of familial early-onset Alzheimer's disease linked to chromosome 14q24.3.

1 reference

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21 January 2018

Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased Abeta42 secretion.

1 reference

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21 January 2018

The Glu318Gly substitution in presenilin 1 is not causally related to Alzheimer disease

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820011001%29103%3A2%3C138%3A%3AAID-AJMG1529%3E3.0.CO%3B2-8

21 January 2018

Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. A meta-analysis. APOE and Alzheimer Disease Meta Analysis Consortium

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820011001%29103%3A2%3C138%3A%3AAID-AJMG1529%3E3.0.CO%3B2-8

21 January 2018

Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820011001%29103%3A2%3C138%3A%3AAID-AJMG1529%3E3.0.CO%3B2-8

21 January 2018

Is the presenilin-1 E318G missense mutation a risk factor for Alzheimer's disease?

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820011001%29103%3A2%3C138%3A%3AAID-AJMG1529%3E3.0.CO%3B2-8

21 January 2018

APOE epsilon4 and Alzheimer's disease: positive association in a Colombian clinical series and review of the Latin-American studies

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820011001%29103%3A2%3C138%3A%3AAID-AJMG1529%3E3.0.CO%3B2-8

21 January 2018

Candidate gene for the chromosome 1 familial Alzheimer's disease locus

1 reference

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21 January 2018

Clinical features of early-onset Alzheimer disease in a large kindred with an E280A presenilin-1 mutation.

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820011001%29103%3A2%3C138%3A%3AAID-AJMG1529%3E3.0.CO%3B2-8

21 January 2018

Apolipoprotein E epsilon4 allele and familial aggregation of Alzheimer disease.

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820011001%29103%3A2%3C138%3A%3AAID-AJMG1529%3E3.0.CO%3B2-8

21 January 2018

The Glu318Gly mutation of the presenilin-1 gene does not necessarily cause Alzheimer's disease.

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820011001%29103%3A2%3C138%3A%3AAID-AJMG1529%3E3.0.CO%3B2-8

21 January 2018

Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820011001%29103%3A2%3C138%3A%3AAID-AJMG1529%3E3.0.CO%3B2-8

21 January 2018

Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene

1 reference

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21 January 2018

APOE is a major susceptibility gene for Alzheimer's disease

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820011001%29103%3A2%3C138%3A%3AAID-AJMG1529%3E3.0.CO%3B2-8

21 January 2018

Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820011001%29103%3A2%3C138%3A%3AAID-AJMG1529%3E3.0.CO%3B2-8

21 January 2018

Variable phenotype of Alzheimer's disease with spastic paraparesis.

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820011001%29103%3A2%3C138%3A%3AAID-AJMG1529%3E3.0.CO%3B2-8

21 January 2018

Binding of human apolipoprotein E to synthetic amyloid beta peptide: isoform-specific effects and implications for late-onset Alzheimer disease

1 reference

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21 January 2018

Sequence analysis of presenilin-1 gene mutation in Japanese Alzheimer's disease patients.

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820011001%29103%3A2%3C138%3A%3AAID-AJMG1529%3E3.0.CO%3B2-8

21 January 2018

Genetic association between intronic polymorphism in presenilin-1 gene and late-onset Alzheimer's disease. Alzheimer's Disease Collaborative Group

1 reference

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21 January 2018

Estimation of the Genetic Contribution of Presenilin-1 and -2 Mutations in a Population-Based Study of Presenile Alzheimer Disease

1 reference

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21 January 2018

Three different mutations of presenilin 1 gene in early-onset Alzheimer's disease families

1 reference

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21 January 2018

Incomplete penetrance of familial Alzheimer's disease in a pedigree with a novel presenilin-1 gene mutation

1 reference

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21 January 2018

Splicing mutation of presenilin-1 gene for early-onset familial Alzheimer's disease.

1 reference

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21 January 2018

Complete analysis of the presenilin 1 gene in early onset Alzheimer's disease.

1 reference

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21 January 2018

E280A PS-1 mutation causes Alzheimer's disease but age of onset is not modified by ApoE alleles

1 reference

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21 January 2018

Presenilin 1 Met146Leu variant due to an A --> T transversion in an early-onset familial Alzheimer's disease pedigree from Argentina.

1 reference

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21 January 2018

Apolipoprotein E4 allele in a population–based study of early–onset Alzheimer's disease

1 reference

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21 January 2018

Identifiers

10.1002/1096-8628(20011001)103:2<138::AID-AJMG1529>3.0.CO;2-8

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11568920%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11568920%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

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