Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes. (Q36437705)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9100224%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

title

Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes (English)

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2 November 2019

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6

R J Desnick

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2 November 2019

author name string

C M Eng

1

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2 November 2019

G A Ashley

2

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2 November 2019

T S Burgert

3

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2 November 2019

A L Enriquez

4

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2 November 2019

M D'Souza

5

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2 November 2019

language of work or name

English

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publication date

1 March 1997

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2 November 2019

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2 November 2019

volume

3

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2 November 2019

page(s)

174-182

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2 November 2019

issue

3

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https://scigraph.springernature.com/pub.10.1007/bf03401671

2 November 2019

exact match

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cites work

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

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Unusual mutation clusters provide insight into class I gene conversion mechanisms

30 September 2017

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

30 September 2017

1 reference

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Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230047

The CpG dinucleotide and human genetic disease

30 September 2017

1 reference

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

30 September 2017

1 reference

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Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.

30 September 2017

1 reference

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

30 September 2017

1 reference

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Nucleotide sequence of the human alpha-galactosidase A gene

30 September 2017

1 reference

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

30 September 2017

1 reference

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Identification of mutations in the COL4A5 collagen gene in Alport syndrome

30 September 2017

1 reference

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Identification of a frameshift mutation responsible for the silent phenotype of human serum cholinesterase, Gly 117 (GGT----GGAG)

30 September 2017

1 reference

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230047

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

30 September 2017

1 reference

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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

30 September 2017

1 reference

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Fabry's disease: enzymatic diagnosis of hemizygotes and heterozygotes. Alpha-galactosidase activities in plasma, serum, urine, and leukocytes

30 September 2017

1 reference

12 December 2020

Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries

1 reference

12 December 2020

Mechanisms of insertional mutagenesis in human genes causing genetic disease

1 reference

12 December 2020

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

1 reference

12 December 2020

A novel complex mutation in the LDL receptor gene probably caused by the simultaneous occurrence of deletion and insertion in the same region

1 reference

12 December 2020

Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene

1 reference

12 December 2020

An atypical variant of Fabry's disease in men with left ventricular hypertrophy

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF03401671

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9100224%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9100224%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

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