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

DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome.

Journal of medical genetics - 1 Apr 2005

Correa-Cerro L S, Wassif C A, Waye J S, Krakowiak P A, Cozma D, Dobson N R, Levin S W, Anadiotis G, Steiner R D, Krajewska-Walasek M, Nowaczyk M J M, Porter F D

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 Cells, Cultured
Share to Cholesterol
Share to Codon, Nonsense
Share to Infant, Newborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Oxidoreductases Acting on CH-CH Group Donors

Share to Pregnancy

Share to RNA, Messenger

Share to Smith-Lemli-Opitz Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 15805162
DOI: 10.1136/jmg.2004.022749
PMCID: PMC1736027

Genes

DHCR7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome.PMID 15805162Read ↗

De novo mutation of the DHCR7 gene in a fetus with severe Smith-Lemli-Opitz (or RSH) syndrome.Semantic proximity Read ↗

Nonsense-mediated mRNA decay in mammals.Semantic proximity Read ↗

DHCR7 and Smith-Lemli-Opitz syndrome.Semantic proximity Read ↗

Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy.Semantic proximity Read ↗

Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease.Semantic proximity Read ↗

Nonsense-mediated mRNA decayin health and diseaseSemantic proximity Read ↗

Nonsense-mediated RNA decay in the brain: emerging modulator of neural development and diseaseSemantic proximity Read ↗

Genetic disruption of nonsense-mediated mRNA decay in neurodevelopmental disordersSemantic proximity Read ↗

Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice.Semantic proximity Read ↗

RHD Tyr311Stop encoded by a novel nonsense mutation.Semantic proximity Read ↗

Transcript Long-Read Sequencing Unveils the Molecular Complexity of a Novel ROGDI Splicing Variant in a Tunisian Family With Kohlschütter-Tönz Syndrome.Semantic proximity Read ↗

Clinical utility gene card for: Smith-Lemli-Opitz Syndrome [SLOS].Semantic proximity Read ↗

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