Novel trinucleotide deletion in Fabry's disease. (Q65001099)

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scientific article published in April 1996

Language	Label	Description	Also known as
English	Novel trinucleotide deletion in Fabry's disease.	scientific article published in April 1996

Statements

scholarly article

1 reference

Europe PubMed Central

3 July 2019

http://europepmc.org/abstract/MED/8834244

Novel trinucleotide deletion in Fabry's disease. (English)

1 reference

Europe PubMed Central

3 July 2019

http://europepmc.org/abstract/MED/8834244

1 reference

based on heuristic

inferred from title

Myron Christodoulides

2

1 reference

Europe PubMed Central

3 July 2019

http://europepmc.org/abstract/MED/8834244

author name string

M A Cariolou

1

1 reference

Europe PubMed Central

3 July 2019

http://europepmc.org/abstract/MED/8834244

P Manoli

3

1 reference

Europe PubMed Central

3 July 2019

http://europepmc.org/abstract/MED/8834244

A Kokkofitou

4

1 reference

Europe PubMed Central

3 July 2019

http://europepmc.org/abstract/MED/8834244

D Tsambaos

5

1 reference

Europe PubMed Central

3 July 2019

http://europepmc.org/abstract/MED/8834244

publication date

1 April 1996

1 reference

Europe PubMed Central

3 July 2019

http://europepmc.org/abstract/MED/8834244

1 reference

Europe PubMed Central

3 July 2019

http://europepmc.org/abstract/MED/8834244

97

1 reference

Europe PubMed Central

3 July 2019

http://europepmc.org/abstract/MED/8834244

4

1 reference

Europe PubMed Central

3 July 2019

http://europepmc.org/abstract/MED/8834244

468-470

1 reference

Europe PubMed Central

3 July 2019

http://europepmc.org/abstract/MED/8834244

https://scigraph.springernature.com/pub.10.1007/bf02267068

0 references

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8834244

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1 reference

https://pubmed.ncbi.nlm.nih.gov/8834244

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/8834244

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fabry's Disease: Alpha-Galactosidase Deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/8834244

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3' untranslated region

1 reference

https://pubmed.ncbi.nlm.nih.gov/8834244

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/8834244

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8834244

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fabry disease: detection of gene rearrangements in the human alpha-galactosidase A gene by multiplex PCR amplification

1 reference

https://pubmed.ncbi.nlm.nih.gov/8834244

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/8834244

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nucleotide sequence of the human alpha-galactosidase A gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/8834244

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Anderson Fabry disease, a close linkage with highly polymorphic DNA markers DXS17, DXS87 and DXS88.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8834244

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/8834244

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human alpha-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme

1 reference

https://pubmed.ncbi.nlm.nih.gov/8834244

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/8834244

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF02267068

1 reference

Europe PubMed Central

3 July 2019

http://europepmc.org/abstract/MED/8834244

Dimensions Publication ID

0 references

1 reference

Europe PubMed Central

3 July 2019

http://europepmc.org/abstract/MED/8834244

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