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

Seven novel genetic variants in a North Indian cohort with classical homocystinuria.

Scientific reports - 14 Oct 2020

Kaur Rajdeep, Attri Savita V, Saini Arushi G, Sankhyan Naveen, Singh Satwinder, Faruq Mohammed, Ramprasad V L, Sharda Sheetal, Murugan Sakthivel

Abstract excerpt

Classical homocystinuria is the most common cause of isolated homocystinuria. The variants of the CBS gene remain unidentified in Indian children with this disorder. Based on the hallmark clinical features, family history, and/or biochemical clues for classical homocystinuria, 16 children below the age of 18 years were evaluated by Sanger sequencing of the coding exons of CBS gene with flanking intronic regions....

Read the complete abstract on PubMed

Topics

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

Share to Cohort Studies
Share to Genetic Counseling

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homocystinuria

Share to Methylenetetrahydrofolate Reductase (NADPH2)

Share to Microfilament Proteins

Share to Peptides

Share to Prenatal Diagnosis

Source

Open in PubMed Open full text

Identifiers

PMID: 33057012
DOI: 10.1038/s41598-020-73475-5
PMCID: PMC7560719

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Seven novel genetic variants in a North Indian cohort with classical homocystinuria.PMID 33057012Read ↗

Classical homocystinuria: A common inborn error of metabolism? An epidemiological study based on genetic databasesSemantic proximity Read ↗

Eight novel mutations of CBS gene in nine Chinese patients with classical homocystinuria.Semantic proximity Read ↗

Novel Compound Heterozygous CBS Mutations Cause Homocystinuria in a Han Chinese Family.Semantic proximity Read ↗

The Spectrum of Mutations of Homocystinuria in the MENA Region.Semantic proximity Read ↗

Novel cystathionine β-synthase gene mutations in a Filipino patient with classic homocystinuria.Semantic proximity Read ↗

CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients.Semantic proximity Read ↗

Clinical Applications and Implications of Common and Founder Mutations in Indian SubpopulationsSemantic proximity Read ↗

Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria.Semantic proximity Read ↗

A common mutation in the<i>CBS</i>gene explains a high incidence of homocystinuria in the Qatari populationSemantic proximity Read ↗

Early Diagnosis of Classic Homocystinuria in Kuwait through Newborn Screening: A 6-Year ExperienceSemantic proximity Read ↗

Analysis of CBS alleles in Czech and Slovak patients with homocystinuria: report on three novel mutations E176K, W409X and 1223 + 37 del99.Semantic proximity Read ↗

Development of low-cost in-house tetra-ARMS-PCR assay for the screening of five CBS mutations found in Pakistani homocystinuria patients.Semantic proximity Read ↗

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