(Q41348264)

29 September 2017

title

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

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29 September 2017

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T Okumiya

1

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29 September 2017

S Ishii

2

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29 September 2017

R Kase

3

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29 September 2017

S Kamei

4

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29 September 2017

H Sakuraba

5

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29 September 2017

Y Suzuki

6

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29 September 2017

publication date

1 May 1995

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29 September 2017

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29 September 2017

volume

95

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29 September 2017

issue

5

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29 September 2017

page(s)

557-561

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A strategy to reveal high-frequency RFLPs along the human X chromosome

29 September 2017

cites work

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12 December 2020

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

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12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: procedure and some applications

1 reference

12 December 2020

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

1 reference

12 December 2020

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

12 December 2020

Nucleotide sequence of the human alpha-galactosidase A gene

1 reference

12 December 2020

DNA sequencing with chain-terminating inhibitors

1 reference

12 December 2020

Fabry disease: isolation of a cDNA clone encoding human alpha-galactosidase A

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

1 reference

12 December 2020

A 3′ splice site consensus sequence mutation in the intron 3 of the α-galactosidase a gene in a patient with Fabry disease

1 reference

12 December 2020

Invariant exon skipping in the human α-galactosidase A pre-mRNA: A g+1 to t substitution in a 5′-splice site causing Fabry disease

1 reference

12 December 2020

Characterization of a mutant alpha-galactosidase gene product for the late-onset cardiac form of Fabry disease

1 reference

12 December 2020

Quantitative analysis of dystrophin gene amplification products using a PC-based image analysis system

1 reference

12 December 2020

Partial deletion of human alpha-galactosidase A gene in Fabry disease: direct repeat sequences as a possible cause of slipped mispairing

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00223869

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Dimensions Publication ID

29 September 2017

1040921804

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