(Q34511167)

English

High frequency of alkaptonuria in Slovakia: evidence for the appearance of multiple mutations in HGO involving different mutational hot spots

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

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High frequency of alkaptonuria in Slovakia: evidence for the appearance of multiple mutations in HGO involving different mutational hot spots (English)

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

author name string

Zatková A

1

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

de Bernabé DB

2

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Poláková H

3

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Zvarík M

4

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Feráková E

5

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Bosák V

6

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Ferák V

7

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Kádasi L

8

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

de Córdoba SR

9

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

language of work or name

0 references

publication date

2 October 2000

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

67

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

5

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

1333-1339

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

The nature of the defect in tyrosine metabolism in alcaptonuria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288576

7 July 2018

Novel mutations in the homogentisate-1,2-dioxygenase gene identified in Slovak patients with alkaptonuria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288576

7 July 2018

Crystal structure of human homogentisate dioxygenase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288576

7 July 2018

Mutational analysis of the HGO gene in Finnish alkaptonuria patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288576

7 July 2018

Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288576

7 July 2018

Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288576

7 July 2018

The human homogentisate 1,2-dioxygenase (HGO) gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288576

7 July 2018

Molecular defects in alkaptonuria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288576

7 July 2018

The molecular basis of alkaptonuria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288576

7 July 2018

Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288576

7 July 2018

Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288576

7 July 2018

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288576

7 July 2018

The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288576

7 July 2018

Alkaptonuria in the Trenčín District of Czechoslovakia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288576

7 July 2018

Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288576

27 October 2018

Sequence analysis of the homogentisate 1,2 dioxygenase gene in a family affected by alkaptonuria.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288576

27 October 2018

Analysis of alkaptonuria (AKU) mutations and polymorphisms reveals that the CCC sequence motif is a mutational hot spot in the homogentisate 1,2 dioxygenase gene (HGO).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288576

27 October 2018

Structural and functional analysis of mutations in alkaptonuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/11017803

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel point mutation associated with alkaptonuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/11017803

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular diagnosis of alkaptonuria mutation by analysis of homogentisate 1,2 dioxygenase mRNA from urine and blood

1 reference

https://pubmed.ncbi.nlm.nih.gov/11017803

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Allelic heterogeneity of alkaptonuria in Central Europe

1 reference

https://pubmed.ncbi.nlm.nih.gov/11017803

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

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