(Q24319125)

GOA release 2020-03-11

hydrolase activity

1 reference

Exon definition may facilitate splice site selection in RNAs with multiple exons

GOA release 2020-03-11

1 reference

2

R J Desnick

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author name string

C M Eng

series ordinal

1

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language of work or name

English

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publication date

1994

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published in

Human Mutation

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volume

3

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issue

2

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page(s)

103-11

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cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030204

Identification of mutations in the COL4A5 collagen gene in Alport syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030204

7 January 2021

Restriction sites containing CpG show a higher frequency of polymorphism in human DNA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030204

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030204

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030204

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030204

7 January 2021

X-linked megalocornea: close linkage to DXS87 and DXS94.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030204

7 January 2021

Ceramide trihexosidosis (fabry's disease) without skin lesions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030204

7 January 2021

The CpG dinucleotide and human genetic disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030204

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030204

7 January 2021

Sequence variations in the first exon of alpha-galactosidase A.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030204

7 January 2021

Replication of Eukaryotic Chromosomes: A Close-up of the Replication Fork

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030204

7 January 2021

Fabry disease: molecular diagnosis of hemizygotes and heterozygotes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030204

7 January 2021

The structure and evolution of the human beta-globin gene family

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030204

7 January 2021

Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030204

7 January 2021

Fabry's disease: heterozygote detection by hair root analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030204

7 January 2021

Identification of a distinct type IV collagen alpha chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030204

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030204

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030204

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030204

7 January 2021

Detection of Fabry's disease heterozygotes by enzyme analysis in single fibroblasts after cell sorting

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030204

7 January 2021

Fabry disease in a large Nova Scotia kindred: carrier detection using leucocyte alpha-galactosidase activity and an NcoI polymorphism detected by an alpha-galactosidase cDNA clone

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030204

7 January 2021

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

https://api.crossref.org/works/10.1002%2FHUMU.1380030204

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/10.1002%2FHUMU.1380030204

7 January 2021

Nucleotide sequence of the human alpha-galactosidase A gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030204

7 January 2021

Anderson Fabry disease, a close linkage with highly polymorphic DNA markers DXS17, DXS87 and DXS88.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030204

7 January 2021

A catalogue of splice junction sequences

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030204

7 January 2021

Investigation of the alpha-galactosidase deficiency in Fabry's disease using antibodies against the purified enzyme.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030204

7 January 2021

Genetic Inactivation of the α-Galactosidase Locus in Carriers of Fabry's Disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030204

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030204

7 January 2021

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

https://api.crossref.org/works/10.1002%2FHUMU.1380030204

7 January 2021

The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030204

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030204

7 January 2021

Structural organization and complete sequence of the human α-N-acetylgalactosaminidase gene: Homology with the α-galactosidase A gene provides evidence for evolution from a common ancestral gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030204

7 January 2021