(Q24676955)

1

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A Oshima

2

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Y Fukuhara

3

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M Shimmoto

4

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Y Nagao

5

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D F Bishop

6

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Y Suzuki

American Journal of Human Genetics

8

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language of work or name

English

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publication date

November 1990

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published in

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volume

47

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issue

5

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page(s)

784-9

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cites work

Cloning, sequencing, and expression of cDNA for human beta-galactosidase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683686

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683686

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683686

Nucleotide sequence of the human alpha-galactosidase A gene

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683686

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683686

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683686

DNA sequencing with chain-terminating inhibitors

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683686

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683686

Detection of specific sequences among DNA fragments separated by gel electrophoresis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683686

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683686

Gene action in the X-chromosome of the mouse (Mus musculus L.)

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683686

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683686

Residual activity of alpha-galactosidase A in Fabry's disease

28 September 2017

1 reference

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Ceramide trihexosidosis (fabry's disease) without skin lesions

30 May 2018

1 reference

12 December 2020

FABRY'S DISEASE: CLASSIFICATION AS A SPHINGOLIPIDOSIS AND PARTIAL CHARACTERIZATION OF A NOVEL GLYCOLIPID

1 reference

12 December 2020

Pseudodeficiency of alpha-galactosidase A

1 reference

12 December 2020

Fabry's disease with partially deficient hydrolysis of ceramide trihexoside

1 reference

12 December 2020

Fabry disease: molecular diagnosis of hemizygotes and heterozygotes

1 reference

12 December 2020