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

Novel splicing mutation of the PPOX gene (IVS10 + 1G-->A) detected by denaturing high-performance liquid chromatography.

Clinica chimica acta; international journal of clinical chemistry - 1 Mar 2001

Lam C W, Hui K N, Poon P M, Luk N M, Yuen Y P, Tong S F, Lai C K, Chan Y W, Lo K K

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Chromatography, High Pressure Liquid
Share to Flavoproteins
Share to Mitochondrial Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Oxidoreductases

Share to Oxidoreductases Acting on CH-CH Group Donors

Share to Protein Denaturation

Share to Protoporphyrinogen Oxidase

Share to RNA Splicing

Source

Identifiers

PMID: 11249940
DOI: 10.1016/s0009-8981(01)00382-5

Genes

PPOX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel splicing mutation of the PPOX gene (IVS10 + 1G-->A) detected by denaturing high-performance liquid chromatography.PMID 11249940Read ↗

Novel PPOX exonic mutation inducing aberrant splicing in a patient with homozygous variegate porphyria.Semantic proximity Read ↗

Glucose-6-phosphate dehydrogenase qingzhen: identification of a novel splice mutation (IVS5-1 G>A).Semantic proximity Read ↗

Consequences at mRNA level of the PKLR gene splicing mutations IVS10(+1)G-->C and IVS8(+2)T-->G causing pyruvate kinase deficiency.Semantic proximity Read ↗

Novel PHEX Variants and Splicing Mutations in Patients with X-Linked HypophosphatemiaSemantic proximity Read ↗

Novel mutation of PPOX gene in a patient with abdominal pain and syndrome of inappropriate antidiuresis.Semantic proximity Read ↗

The assessment of noncoding variant of PPOX gene in variegate porphyria reveals post-transcriptional role of the 5' untranslated exon 1.Semantic proximity Read ↗

Two new mutations in the PPOX gene in a patient with variegate porphyria.Semantic proximity Read ↗

Aberrant splicing at catalytic site as cause of infantile onset glycogen storage disease type II (GSDII): molecular identification of a novel IVS9 (+2GT-->GC) in combination with rare IVS10 (+1GT-->CT).Semantic proximity Read ↗

Dominant optic atrophy caused by a novel OPA1 splice site mutation (IVS20+1G-->A) associated with intron retention.Semantic proximity Read ↗

Two polymorphic mutations (c2331A>C and IVS11+142insAGAAATTTTAAGTCTT) in the human peroxin 1 gene (PEX1).Semantic proximity Read ↗

Rapid detection of ITPA 94C>A and IVS2 + 21A>C gene mutations by real-time fluorescence PCR and in vitro demonstration of effect of ITPA IVS2 + 21A>C polymorphism on splicing efficiency.Semantic proximity Read ↗

Relative frequency of IVS10nt546 mutation in a Portuguese phenylketonuric population.Semantic proximity Read ↗

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