(Q54109569)

24 May 2018

title

Alpha-galactosidase transgenic mouse: heterogeneous gene expression and posttranslational glycosylation in tissues. (English)

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24 May 2018

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S Ishii

1

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24 May 2018

R Kase

2

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H Sakuraba

3

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C Taya

4

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H Yonekawa

5

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T Okumiya

6

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Y Matsuda

7

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K Mannen

8

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M Takeshita

9

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Y Suzuki

10

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publication date

1 June 1998

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24 May 2018

published in

Glycoconjugate Journal

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24 May 2018

volume

15

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24 May 2018

issue

6

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24 May 2018

page(s)

591-594

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24 May 2018

https://scigraph.springernature.com/pub.10.1023/a:1006915926732

exact match

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Factors affecting the efficiency of introducing foreign DNA into mice by microinjecting eggs

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12 December 2020

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

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12 December 2020

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

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

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12 December 2020

An Atypical Variant of Fabry's Disease in Men with Left Ventricular Hypertrophy

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12 December 2020

Alpha-galactosidase A gene rearrangements causing Fabry disease. Identification of short direct repeats at breakpoints in an Alu-rich gene

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12 December 2020

Affinity purification of alpha-galactosidase A from human spleen, placenta, and plasma with elimination of pyrogen contamination. Properties of the purified splenic enzyme compared to other forms

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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

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

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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

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12 December 2020

Replacement Therapy for Inherited Enzyme Deficiency

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Enzyme Replacement in Fabry's Disease, an Inborn Error of Metabolism

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12 December 2020

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

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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

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12 December 2020

Enzyme therapy in Fabry disease: differential in vivo plasma clearance and metabolic effectiveness of plasma and splenic alpha-galactosidase A isozymes

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

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12 December 2020

Identifiers

DOI

10.1023/A:1006915926732

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24 May 2018

Dimensions Publication ID

1003141752

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24 May 2018