(Q64938721)

1 July 2019

title

Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography. (English)

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1 July 2019

high-performance liquid chromatography

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3

Robert J Desnick

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1 July 2019

author name string

Junaid Shabbeer

series ordinal

1

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1 July 2019

Misi Robinson

series ordinal

2

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1 July 2019

publication date

1 March 2005

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1 July 2019

published in

Human Mutation

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1 July 2019

volume

25

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1 July 2019

issue

3

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1 July 2019

page(s)

299-305

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1 July 2019

Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype

cites work

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https://api.crossref.org/works/10.1002%2FHUMU.20144

7 January 2021

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

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Fabry disease: 20 novel GLA mutations in 35 families

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Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course

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The CpG dinucleotide and human genetic disease

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

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

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

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

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

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Clinical features of Fabry's disease in Australian patients

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Fluorescence-assisted mismatch analysis (FAMA) for exhaustive screening of the alpha-galactosidase A gene and detection of carriers in Fabry disease

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Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.

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Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice

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

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Nucleotide sequence of the human alpha-galactosidase A gene

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

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Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females

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Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males

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7 January 2021

An Atypical Variant of Fabry's Disease in Men with Left Ventricular Hypertrophy

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7 January 2021

Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype

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DHPLC screening of cystic fibrosis gene mutations.

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Molecular analysis in Fabry disease in Spain: fifteen novel GLA mutations and identification of a homozygous female

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Five novel mutations in fourteen patients with Fabry Disease

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A mutation analysis of the BRCA1 gene in 140 families from southeast France with a history of breast and/or ovarian cancer

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Fabry disease: 45 novel mutations in the alpha-galactosidase A gene causing the classical phenotype

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7 January 2021

Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis.

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7 January 2021

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

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7 January 2021

Clinical features and genetic analysis of a Chinese kindred with Fabry's disease

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7 January 2021

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

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7 January 2021

Denaturing high-performance liquid chromatography: A review

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https://api.crossref.org/works/10.1002%2FHUMU.20144

7 January 2021

Identifiers

DOI

10.1002/HUMU.20144

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1 July 2019

PubMed ID

15712228

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1 July 2019