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

Novel disease-causing variants in a cohort of Iranian patients with metachromatic leukodystrophy and in silico analysis of their pathogenicity

22 Dec 2020

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 Glycogen Storage Diseases and Myoclonus
Share to Lysosomal Storage Disorders Research
Share to Metabolism and Genetic Disorders

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 33385934
DOI: 10.1016/j.clineuro.2020.106448

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel disease-causing variants in a cohort of Iranian patients with metachromatic leukodystrophy and in silico analysis of their pathogenicityPMID 33385934Read ↗

Identification of seven novel mutations associated with metachromatic leukodystrophy.Semantic proximity Read ↗

Spectrum of ARSA mutations in Iranian patients with metachromatic leukodystrophy.Semantic proximity Read ↗

Mutations associated with very late-onset metachromatic leukodystrophy.Semantic proximity Read ↗

Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants.Semantic proximity Read ↗

Assessment of the pathogenicity of the p.K695R and p.A744S Mediterranean fever gene variantsSemantic proximity Read ↗

Complex genotypes in family with metachromatic leukodystrophy: Effect of trans and cis mutations distribution on the phenotype variability.Semantic proximity Read ↗

Genetic Testing of Leukodystrophies Unraveling Extensive Heterogeneity in a Large Cohort: The Role of Five Common Diseases and Report of 38 Novel VariantsSemantic proximity Read ↗

Mediterranean Founder Mutation Database (MFMD): Taking Advantage from Founder Mutations in Genetics Diagnosis, Genetic Diversity and Migration History of the Mediterranean Population.Semantic proximity Read ↗

Elevated Leukodystrophy Incidence Predicted From Genomics DatabasesSemantic proximity Read ↗

Metachromatic leukodystrophy: Disease spectrum and approaches for treatmentSemantic proximity Read ↗

Two females with distinct de novo missense pathogenic variants in MED12 and vastly differing phenotypes.Semantic proximity Read ↗

Minigene Assay as an Effective Molecular Diagnostic Strategy in Determining the Pathogenicity of Noncanonical Splice-Site Variants in FLCNSemantic proximity Read ↗

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