Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Human mutation - 1 Mar 2005

Shabbeer Junaid, Robinson Misi, Desnick Robert J

Abstract excerpt

Mutations in the alpha-galactosidase A (alpha-Gal A, GLA) gene cause Fabry disease, an X-linked recessive lysosomal storage disease. The majority of mutations are private, and confirmation of carrier status in females requires the definitive identification of a DNA mutation. In addition, knowledge of a family's mutation enables rapid and precise preimplantation and prenatal genetic testing. Here we report the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to alpha-Galactosidase
Share to Chromatography, High Pressure Liquid

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Cost-Benefit Analysis

Share to Fabry Disease

Share to Genetic Carrier Screening

Share to Introns

Share to Lymphocytes

Share to Nucleic Acid Denaturation

Source

Identifiers

PMID: 15712228
DOI: 10.1002/humu.20144

Genes

GLA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.PMID 15712228Read ↗

A sensitive mutation screening strategy for Fabry disease: detection of nine mutations in the alpha-galactosidase A gene.Semantic proximity Read ↗

Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype.Semantic proximity Read ↗

Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.Semantic proximity Read ↗

Fabry disease: 45 novel mutations in the alpha-galactosidase A gene causing the classical phenotype.Semantic proximity Read ↗

Identification of novel mutations in the α-galactosidase A gene in patients with Fabry disease: pitfalls of mutation analyses in patients with low α-galactosidase A activity.Semantic proximity Read ↗

Genomic analysis of Brazilian patients with Fabry disease.Semantic proximity Read ↗

Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.Semantic proximity Read ↗

Fabry disease: a new approach for the screening of females in high-risk groups.Semantic proximity Read ↗

Fabry disease: comparison of enzymatic, linkage, and mutation analysis for carrier detection in a family with a novel mutation (30delG).Semantic proximity Read ↗

Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes.Semantic proximity Read ↗

Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes.Semantic proximity Read ↗

Newborn genetic screening for Fabry disease: Insights from a retrospective analysis in Nanjing, China.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.