(Q52130159)

22 April 2018

title

Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease. (English)

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22 April 2018

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4

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22 April 2018

author name string

Altarescu GM

1

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22 April 2018

Goldfarb LG

2

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22 April 2018

Park KY

3

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22 April 2018

Jeffries N

5

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22 April 2018

Litvak S

6

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22 April 2018

Nagle JW

7

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22 April 2018

Schiffmann R

8

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22 April 2018

publication date

1 July 2001

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22 April 2018

published in

Clinical Genetics

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22 April 2018

volume

60

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22 April 2018

issue

1

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22 April 2018

page(s)

46-51

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22 April 2018

Overexpression of human alpha-galactosidase A results in its intracellular aggregation, crystallization in lysosomes, and selective secretion

cites work

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600107.X

Fabry disease: Diagnosis by α-galactosidase activities in tears

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600107.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600107.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600107.X

Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600107.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600107.X

The CpG dinucleotide and human genetic disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600107.X

[Fabry disease. Clinical and genetic aspects. Therapeutic perspectives].

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600107.X

Enzymatic Defect in Fabry's Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600107.X

7 January 2021

Cardiac valvular anomalies in Fabry disease. Clinical, morphologic, and biochemical studies

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600107.X

7 January 2021

Fabry disease: detection of gene rearrangements in the human alpha-galactosidase A gene by multiplex PCR amplification

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600107.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600107.X

7 January 2021

Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600107.X

7 January 2021

Differential assay for lysosomal alpha-galactosidases in human tissues and its application to Fabry's disease

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600107.X

7 January 2021

A sensitive mutation screening strategy for Fabry disease: detection of nine mutations in the alpha-galactosidase A gene

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600107.X

7 January 2021

The utility of single-strand conformation polymorphism (SSCP) analysis: results obtained in families with Fabry's disease

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600107.X

7 January 2021

10.1034/J.1399-0004.2001.600107.X

Identifiers

DOI

1 reference

22 April 2018

release_p7eh7qimgjaq7nbakgiios6juy

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/p7eh7qimgjaq7nbakgiios6juy

24 November 2022

mapped directly with Wikidata item

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22 April 2018