(Q48783011)

English

Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis.

scientific article published in March 1997

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scholarly article

1 reference

Europe PubMed Central

15 February 2018

http://europepmc.org/abstract/MED/9105656

Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis. (English)

1 reference

Europe PubMed Central

15 February 2018

http://europepmc.org/abstract/MED/9105656

1 reference

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author name string

Takata T

1

1 reference

Europe PubMed Central

15 February 2018

http://europepmc.org/abstract/MED/9105656

Okumiya T

2

1 reference

Europe PubMed Central

15 February 2018

http://europepmc.org/abstract/MED/9105656

Hayashibe H

3

1 reference

Europe PubMed Central

15 February 2018

http://europepmc.org/abstract/MED/9105656

Shimmoto M

4

1 reference

Europe PubMed Central

15 February 2018

http://europepmc.org/abstract/MED/9105656

Kase R

5

1 reference

Europe PubMed Central

15 February 2018

http://europepmc.org/abstract/MED/9105656

Itoh K

6

1 reference

Europe PubMed Central

15 February 2018

http://europepmc.org/abstract/MED/9105656

Utsumi K

7

1 reference

Europe PubMed Central

15 February 2018

http://europepmc.org/abstract/MED/9105656

Kamei S

8

1 reference

Europe PubMed Central

15 February 2018

http://europepmc.org/abstract/MED/9105656

Sakuraba H

9

1 reference

Europe PubMed Central

15 February 2018

http://europepmc.org/abstract/MED/9105656

publication date

1 March 1997

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Europe PubMed Central

15 February 2018

http://europepmc.org/abstract/MED/9105656

Brain and Development

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15 February 2018

http://europepmc.org/abstract/MED/9105656

19

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Europe PubMed Central

15 February 2018

http://europepmc.org/abstract/MED/9105656

2

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Europe PubMed Central

15 February 2018

http://europepmc.org/abstract/MED/9105656

111-116

1 reference

Europe PubMed Central

15 February 2018

http://europepmc.org/abstract/MED/9105656

An atypical variant of Fabry's disease in men with left ventricular hypertrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2896%2900486-X

7 January 2021

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A female heterozygous patient with Fabry's disease with renal accumulation of trihexosylceramide detected with a monoclonal antibody

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2896%2900486-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Nucleotide sequence of the human alpha-galactosidase A gene

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2896%2900486-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2896%2900486-X

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2896%2900486-X

7 January 2021

based on heuristic

inferred from DOI 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://api.crossref.org/works/10.1016%2FS0387-7604%2896%2900486-X

7 January 2021

based on heuristic

inferred from DOI database lookup

A simple method for displaying the hydropathic character of a protein

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2896%2900486-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Human alpha-galactosidase gene expression: significance of two peptide regions encoded by exons 1-2 and 6

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2896%2900486-X

7 January 2021

based on heuristic

inferred from DOI database lookup

The functional role of glutamine-280 and threonine-282 in human alpha-galactosidase

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2896%2900486-X

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2896%2900486-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Fabry disease: detection of 13-bp deletion in alpha-galactosidase A gene and its application to gene diagnosis of heterozygotes

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2896%2900486-X

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2896%2900486-X

7 January 2021

based on heuristic

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Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2896%2900486-X

7 January 2021

based on heuristic

inferred from DOI database lookup

A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2896%2900486-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Alpha-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2896%2900486-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2896%2900486-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Coexistence of gene mutations causing Fabry disease and Duchenne muscular dystrophy in a Japanese boy

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2896%2900486-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Sequence variations in the first exon of alpha-galactosidase A.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2896%2900486-X

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2896%2900486-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S0387-7604(96)00486-X

1 reference

Europe PubMed Central

15 February 2018

http://europepmc.org/abstract/MED/9105656

1 reference

Europe PubMed Central

15 February 2018

http://europepmc.org/abstract/MED/9105656

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