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

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

Journal of inherited metabolic disease - 1 Jul 1997

Kozich V, Janosík M, Sokolová J, Oliveriusová J, Orendác M, Kraus J P, Elleder 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 Cystathionine beta-Synthase
Share to Czech Republic
Share to Homocystinuria
Share to Infant, Newborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Introns

Share to Minisatellite Repeats

Share to RNA, Messenger

Share to Slovakia

Source

Identifiers

PMID: 9266356
DOI: 10.1023/a:1005325911665

Genes

CBS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Analysis of CBS alleles in Czech and Slovak patients with homocystinuria: report on three novel mutations E176K, W409X and 1223 + 37 del99.PMID 9266356Read ↗

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

Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients.Semantic proximity Read ↗

Three novel mutations (P760L, L1305P, Q1351Stop) causing Wilson disease.Semantic proximity Read ↗

Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations.Semantic proximity Read ↗

Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: high prevalence of T191M and absence of I278T or G307S.Semantic proximity Read ↗

Seven novel genetic variants in a North Indian cohort with classical homocystinuria.Semantic proximity Read ↗

The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America.Semantic proximity Read ↗

Cystathionine beta-synthase deficiency in Central Europe: discrepancy between biochemical and molecular genetic screening for homocystinuric alleles.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 ↗

Novel N160I mutation of keratin 9 in a large pedigree from Hungary with epidermolytic palmoplantar keratoderma.Semantic proximity Read ↗

Phenylketonuria in Spanish Gypsies: prevalence of the IVS10nt546 mutation on haplotype 34.Semantic proximity Read ↗

Congenital hypofibrinogenemia associated with a novel heterozygous nonsense mutation in the globular C-terminal domain of the γ-chain (p.Glu275Stop).Semantic proximity Read ↗

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