Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the α-galactosidase A gene in the Czech and Slovak population (Q58468633)

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English	Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the α-galactosidase A gene in the Czech and Slovak population	article

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scholarly article

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10 January 2020

Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population (English)

1 reference

Europe PubMed Central

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10 January 2020

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Robert Dobrovolny

1

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10 January 2020

Lenka Dvořáková

2

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10 January 2020

Jana Ledvinová

3

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10 January 2020

Sudheera Magage

4

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10 January 2020

Jean-Claude Lubanda

6

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10 January 2020

Debora Karetova

8

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10 January 2020

Markéta Pavlíková

9

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10 January 2020

Martin Hrebicek

10

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10 January 2020

author name string

Jan Bultas

5

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10 January 2020

Milan Elleder

7

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10 January 2020

publication date

2 April 2005

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10 January 2020

Journal of Molecular Medicine

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10 January 2020

83

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10 January 2020

8

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10 January 2020

647-654

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10 January 2020

https://scigraph.springernature.com/pub.10.1007/s00109-005-0656-2

0 references

Mutation analysis in patients with the typical form of Anderson-Fabry disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/15806320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X chromosome inactivation patterns in normal females

1 reference

https://pubmed.ncbi.nlm.nih.gov/15806320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The history of X-chromosome inactivation and relation of recent findings to understanding of human X-linked conditions

1 reference

https://pubmed.ncbi.nlm.nih.gov/15806320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Enzymatic Defect in Fabry's Disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/15806320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hypertrophic cardiomyopathy in late-onset variant of Fabry disease with high residual activity of α-galactosidase A

1 reference

https://pubmed.ncbi.nlm.nih.gov/15806320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recurrence of Fabry disease as a result of paternal germline mosaicism for α-galactosidase a gene mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/15806320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Mainz Severity Score Index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15806320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Restricted accumulation of globotriaosylceramide in the hearts of atypical cases of Fabry's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/15806320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An Atypical Variant of Fabry's Disease with Manifestations Confined to the Myocardium

1 reference

https://pubmed.ncbi.nlm.nih.gov/15806320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/15806320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The molecular defect leading to Fabry disease: structure of human alpha-galactosidase

1 reference

https://pubmed.ncbi.nlm.nih.gov/15806320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Restriction sites containing CpG show a higher frequency of polymorphism in human DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/15806320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Quality control in the discovery, reporting, and recording of genomic variation

1 reference

https://pubmed.ncbi.nlm.nih.gov/15806320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/15806320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/15806320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The human gene mutation database

1 reference

https://pubmed.ncbi.nlm.nih.gov/15806320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma

1 reference

https://pubmed.ncbi.nlm.nih.gov/15806320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

1 reference

https://pubmed.ncbi.nlm.nih.gov/15806320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Point mutations in the upstream region of the ?-galactosidase A gene exon 6 in an atypical variant of Fabry disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/15806320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling

1 reference

https://pubmed.ncbi.nlm.nih.gov/15806320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

https://pubmed.ncbi.nlm.nih.gov/15806320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15806320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Androgen receptor gene cytosine, adenine, and guanine trinucleotide repeats in patients with endometriosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/15806320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Differential assay for lysosomal alpha-galactosidases in human tissues and its application to Fabry's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/15806320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structural basis of Fabry disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/15806320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males

1 reference

https://pubmed.ncbi.nlm.nih.gov/15806320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00109-005-0656-2

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15806320%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15806320%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

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