(Q28236442)

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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

scientific article (publication date: 1990)

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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 (English)

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1 reference

1 reference

T Koide

1

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M Ishiura

series ordinal

2

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K Iwai

series ordinal

3

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M Inoue

series ordinal

4

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Y Kaneda

series ordinal

5

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Y Okada

series ordinal

6

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T Uchida

series ordinal

7

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language of work or name

English

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publication date

1 January 1990

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published in

FEBS Letters

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volume

259

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issue

2

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page(s)

353-6

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cites work

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

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21 January 2018

Nucleotide sequence of the human alpha-galactosidase A gene

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reference URL

https://api.crossref.org/works/10.1016%2F0014-5793%2890%2980046-L

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21 January 2018

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

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21 January 2018

Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus

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21 January 2018

The nucleotide sequence of the chick cytoplasmic β-actin gene

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21 January 2018

47 Enzymic diagnosis of sphingolipidoses

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21 January 2018

Empirical Predictions of Protein Conformation

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21 January 2018

Oligonucleotide-directed mutagenesis: a simple method using two oligonucleotide primers and a single-stranded DNA template

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21 January 2018

Identifiers

DOI

10.1016/0014-5793(90)80046-L

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PubMed publication ID

2152885

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ResearchGate publication ID

223576018

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(Q28236442)

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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