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

Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes.

American journal of human genetics - 1 Mar 1993

Shipley J M, Klinkenberg M, Wu B M, Bachinsky D R, Grubb J H, Sly W S

Abstract excerpt

PCR of cDNA produced from patient fibroblasts allowed us to determine the paternal mutation in the first patient reported with beta-glucuronidase-deficiency mucopolysaccharidosis type VII (MPS VII). The G-->T transversion 1,881 bp downstream of the ATG translation initiation codon destroys an MboII restriction site and converts Trp627 to Cys (W627C). Digestion of genomic DNA PCR fragments with MboII indicated...

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to Cell Line
Share to Codon

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

Share to Fibroblasts

Share to Molecular Sequence Data

Share to Mutation

Share to Polymerase Chain Reaction

Source

Open in PubMed Open full text

Identifiers

PMID: 7680524
PMCID: PMC1682147

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

Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes.PMID 7680524Read ↗

Mutational studies in a patient with the hydrops fetalis form of mucopolysaccharidosis type VII.Semantic proximity Read ↗

Molecular analysis of the beta-glucuronidase gene: novel mutations in mucopolysaccharidosis type VII and heterogeneity of the polyadenylation region.Semantic proximity Read ↗

A pseudodeficiency allele (D152N) of the human beta-glucuronidase gene.Semantic proximity Read ↗

Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII.Semantic proximity Read ↗

Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity.Semantic proximity Read ↗

Polymorphic Rescue of a Human Cytochrome P450 Pseudogene (CYP2B7) Reveals Functional Enzyme Activity in a Subset of IndividualsSemantic proximity Read ↗

Identification of a missense mutation in one allele of a patient with Pompe disease, and use of endonuclease digestion of PCR-amplified RNA to demonstrate lack of mRNA expression from the second allele.Semantic proximity Read ↗

Molecular basis of mucopolysaccharidosis type VII: replacement of Ala619 in beta-glucuronidase with Val.Semantic proximity Read ↗

Factor VII gene intronic mutation in a lethal factor VII deficiency: effects on splice-site selection.Semantic proximity Read ↗

PMS2 gene mutational analysis: direct cDNA sequencing to circumvent pseudogene interference.Semantic proximity Read ↗

Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA.Semantic proximity Read ↗

A single-base-pair deletion in the beta-glucuronidase gene accounts for the phenotype of murine mucopolysaccharidosis type VII.Semantic proximity Read ↗

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